TERT gene: Functions, Importance, and Implications

The TERT gene, also known as the telomerase reverse transcriptase gene, is a key component in the maintenance of telomeres, which are the protective caps on the ends of chromosomes. Telomeres play a crucial role in cell division and preventing the loss of important genetic information. Mutations in the TERT gene have been associated with a variety of diseases and conditions, including certain types of cancers, dyskeratosis congenita, pulmonary fibrosis, and aplastic anemia.

One of the most well-known associations of TERT gene mutations is with various forms of cancer. Studies have linked TERT gene mutations to an increased risk of developing certain types of cancer, such as lung cancer, breast cancer, melanoma, and cholangiocarcinoma. These mutations can impair the normal function of telomeres, leading to uncontrolled cell division and the formation of tumors.

Research articles and expert opinions on the TERT gene can be found in scientific databases such as PubMed. Additional information on the TERT gene and its role in cancer and other diseases can be obtained from resources such as the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genetic diseases, and the Cancer Genetics Web (CGW) database, which provides information on the genetics of cancer.

Genetic testing for TERT gene mutations can help identify individuals who may be at increased risk for certain diseases, such as pulmonary fibrosis and dyskeratosis congenita. This information can be useful for early detection and treatment of these conditions. Understanding the biology of the TERT gene and its role in telomere maintenance can also provide insight into the development of new therapies for diseases associated with telomere dysfunction.

Genetic changes in the TERT gene have been associated with various health conditions. These genetic changes can impact the function of telomeres, which are the protective segments at the ends of chromosomes. Below are some health conditions associated with genetic changes in the TERT gene:

Pulmonary Fibrosis: Genetic changes in the TERT gene have been linked to pulmonary fibrosis, a condition in which the lungs become scarred and stiff, impairing their ability to function properly.
Dyskeratosis Congenita: Dyskeratosis congenita is a rare genetic disorder characterized by abnormal changes in the skin, nails, and mucous membranes. Genetic changes in the TERT gene have been found in some cases of dyskeratosis congenita.
Anemia: Some forms of aplastic anemia, a condition characterized by a decrease in the production of red blood cells, have been associated with genetic changes in the TERT gene.
Breast Cancer: Genetic changes in the TERT gene have been implicated in certain cases of breast cancer. Studies suggest that these changes may contribute to the development of the disease.
Cholangiocarcinoma: Cholangiocarcinoma, a type of cancer that forms in the bile ducts, has also been associated with genetic changes in the TERT gene.
Melanoma: Studies have suggested that genetic changes in the TERT gene may play a role in the development of melanoma, a type of skin cancer.

These are just a few examples of health conditions associated with genetic changes in the TERT gene. Further research and testing are needed to fully understand the impact of these genetic changes on different diseases. For more information on these health conditions and the genetic changes involved, it is recommended to refer to scientific articles, the Online Mendelian Inheritance in Man (OMIM) registry, and other reliable resources.

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Dyskeratosis Congenita

Dyskeratosis congenita is a rare genetic disorder that affects the structure and function of telomeres, the protective caps on the ends of chromosomes. Scientific research, patient registries, and expert resources are important for understanding this disease and helping patients.

Dyskeratosis congenita is a complex disorder that can lead to a variety of health problems. It is associated with various names such as Bonhoffer Syndrome, chronic aplastic anemia, Hoyeraal-Hreidarsson syndrome, Revesz syndrome, and others. Common symptoms include abnormal skin pigmentation, nail abnormalities, bone marrow failure, and a predisposition to develop certain cancers.

There is a strong link between dyskeratosis congenita and telomere biology. Mutations in certain genes, such as TERC and TERT, can impair telomere function, leading to the rapid aging of cells and the onset of various diseases, including dyskeratosis congenita and certain types of cancer.

Diagnosis of dyskeratosis congenita typically involves a combination of clinical evaluation, medical history, and molecular genetic testing. Testing for mutations in the TERC and TERT genes can confirm the diagnosis in many cases.

The MedlinePlus and PubMed databases provide additional information on dyskeratosis congenita, including references to scientific articles and resources for patients and healthcare professionals. These resources can help in understanding the disease, its causes, symptoms, and available treatment options. Other databases, such as the Online Mendelian Inheritance in Man (OMIM) and GeneCards, also catalog information on dyskeratosis congenita and related genes.

People with dyskeratosis congenita have an increased risk of developing certain cancers, including leukemia, myelodysplastic syndrome, aplastic anemia, cholangiocarcinoma, melanoma, and breast cancer. Regular medical check-ups and testing can help identify these cancers at an early stage, improving treatment outcomes.

Research on dyskeratosis congenita and telomere biology is ongoing, with the aim of better understanding the disease mechanisms and developing new treatments. Experimental studies have suggested that therapies targeting telomerase and apoptosis control may help manage dyskeratosis congenita and related conditions.

In summary, dyskeratosis congenita is a rare genetic disorder that affects the telomeres and can lead to a range of health problems. Scientific research, patient registries, and expert resources are essential for understanding and managing this disease.

Idiopathic pulmonary fibrosis

Idiopathic pulmonary fibrosis (IPF) is a condition characterized by progressive scarring of the lungs. It is considered to be a type of interstitial lung disease, which affects the tissue and space around the air sacs in the lungs. IPF is called “idiopathic” because the exact cause of the disease is unknown.

Research has shown that mutations in the TERT gene, which encodes the telomerase reverse transcriptase, may play a role in the development of IPF. Telomerase is an enzyme that maintains the length of telomeres, which are protective caps on the ends of chromosomes. Shortening of telomeres has been implicated in various age-related conditions, and mutations in TERT can lead to impaired telomerase function and accelerated telomere shortening.

IPF is typically a sporadic disease, meaning that it occurs in individuals with no family history of the condition. However, in rare cases, IPF can be inherited as an autosomal dominant trait, with mutations in the TERT gene being one possible genetic cause.

The exact mechanisms by which TERT mutations contribute to the development of IPF are still being investigated. Studies have suggested that these mutations may lead to increased susceptibility to lung tissue damage and impair the repair process, resulting in the accumulation of scar tissue. It is possible that other genes or environmental factors may also be involved in the development of IPF.

Breast cancer

Breast cancer is a type of cancer that originates in the breast tissue. It is one of the most common cancers, affecting both men and women. Although the exact causes of breast cancer are not fully understood, it is believed to be a result of complex interactions between genetic, hormonal, and environmental factors.

Research has shown that mutations in the TERT gene may play a role in the development of breast cancer, as well as other types of cancer such as melanoma and lung cancer. Studies have identified TERT gene variants in a subset of breast cancer cases, suggesting an association between TERT gene changes and increased risk of developing the disease. These findings have led to further investigations into the potential use of TERT gene testing as a diagnostic tool for identifying individuals at higher risk for breast cancer.

Experts recommend that individuals with a family history of breast cancer or other genetic conditions associated with an increased risk of breast cancer, such as dystrophy or dyskeratosis congenita, consider genetic testing for TERT gene changes. This testing can help identify individuals who may benefit from increased monitoring, early detection, and preventive measures.

Genetic testing for TERT gene changes can be conducted through various resources, including databases such as OMIM and PubMed, which provide information on the latest scientific articles, clinical trials, and references related to TERT gene and breast cancer. Additionally, resources such as MedlinePlus and expert databases can provide additional information and support for patients and healthcare professionals.

It is important to note that TERT gene testing is only one component of a comprehensive approach to breast cancer risk assessment. Other factors, such as age, family history, and lifestyle choices, also play a significant role in determining an individual’s risk for developing the disease.

Overall, research on the TERT gene and its association with breast cancer is ongoing. As new studies and advancements in genetic testing emerge, it is anticipated that the understanding of the role of TERT gene changes in breast cancer will continue to evolve, providing further insights into the development, diagnosis, and treatment of this complex disease.

Cholangiocarcinoma

Cholangiocarcinoma is a type of cancer that originates in the bile ducts. It is a rare form of cancer that can occur in both the intrahepatic (within the liver) and extrahepatic (outside the liver) bile ducts. The exact cause of cholangiocarcinoma is unknown, but certain risk factors, such as primary sclerosing cholangitis, liver fluke infections, and exposure to certain chemicals, have been associated with an increased risk of developing this cancer.

Multiple studies have suggested a potential link between cholangiocarcinoma and certain genetic variants. The TERT gene, which encodes the telomerase reverse transcriptase protein, is one gene that has been implicated in the biology of this cancer. Genetic testing and analysis of the TERT gene may help identify individuals who are at an increased risk for developing cholangiocarcinoma.

In addition to the TERT gene, several other genes have also been associated with cholangiocarcinoma. These include genes involved in apoptosis, telomere maintenance, and cell cycle control. Further research is needed to fully understand the role of these genes in the development and progression of this cancer.

Patients with cholangiocarcinoma may undergo various tests to diagnose and stage the disease. These tests may include imaging tests, such as CT scans and MRI scans, as well as blood tests and biopsies. A multidisciplinary team of medical experts, including oncologists, hepatologists, and surgeons, may be involved in the care of cholangiocarcinoma patients.

There are resources available to provide information and support for individuals and families affected by cholangiocarcinoma. These resources may include patient registries, scientific articles, and databases with information on genetic variants and associated diseases. Additionally, organizations such as the Cholangiocarcinoma Foundation may offer support and educational materials to help navigate the challenges of this condition.

In conclusion, cholangiocarcinoma is a complex and challenging cancer to diagnose and treat. Genetic testing and analysis of genes such as TERT may provide additional information to help guide treatment decisions and improve patient outcomes. Further research is needed to fully understand the biology of this cancer and develop targeted therapies for patients with cholangiocarcinoma.

Melanoma

Melanoma is a type of skin cancer that originates in the pigment-producing cells called melanocytes. It is characterized by the uncontrolled growth and division of melanocytes, leading to the formation of malignant tumors.

This condition is associated with certain genetic changes, one of which includes mutations in the TERT gene. The TERT gene encodes the telomerase reverse transcriptase enzyme, which plays a crucial role in maintaining the integrity of telomeres – protective segments at the ends of chromosomes. Telomeres protect the DNA from damage and prevent it from unraveling or fusing with neighboring chromosomes.

In melanoma, genetic changes in the TERT gene can trigger the development and progression of the disease. Studies suggest that mutations in the TERT gene may be related to an increased risk of melanoma and poorer clinical outcomes in patients.

The TERT gene is not only associated with melanoma but also with various other cancers, including breast cancer, cholangiocarcinoma, and certain types of bone cancers. The implications of TERT gene mutations in these cancers are still being explored, and further research is needed to fully understand the role of this gene in cancer development and progression.

Genetic tests can be conducted to identify TERT gene mutations in individuals with a family history of melanoma or other cancers associated with this gene. These tests can help assess an individual’s risk and guide appropriate preventive measures or clinical management.

References:

TERT gene. (n.d.). In Genetics Home Reference. Retrieved from https://medlineplus.gov/genetics/gene/tert/
TERT telomerase reverse transcriptase [Homo sapiens (human)]. (2021). In NCBI Gene Database. Retrieved from https://www.ncbi.nlm.nih.gov/gene/7015
Killela, P. J., Reitman, Z. J., & Jiao, Y. (2013). TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal. Proceedings of the National Academy of Sciences, 110(15), 6021-6026.

Cancers

Cancers are a group of diseases characterized by uncontrolled cell division, which can lead to the development of tumors. There are various types of cancers, including breast cancer, lung cancer, melanoma, cholangiocarcinoma, and many others.

Genetic variants in the TERT gene have been associated with an increased risk of developing certain cancers. TERT, or telomerase reverse transcriptase, is an enzyme involved in the maintenance of telomeres, which are the protective caps at the ends of chromosomes. Telomeres play a crucial role in cell division and genetic stability.

Research has shown that abnormalities in the TERT gene can trigger the rapid division of cancer cells and inhibit apoptosis (programmed cell death), allowing tumors to grow and spread. In particular, TERT mutations have been found in cases of breast cancer, lung cancer, and melanoma, among others.

Scientists have also identified a link between TERT gene mutations and certain non-cancerous conditions. For example, mutations in TERT are associated with pulmonary fibrosis, a lung disease characterized by scarring in the lungs. TERC, a gene closely related to TERT, has been implicated in dyskeratosis congenita, a rare genetic disorder characterized by bone marrow failure and other abnormalities.

Diagnostic tests for TERT gene mutations can help identify individuals who may be at an increased risk of developing certain cancers or related disorders. These tests often involve analyzing the DNA sequence of specific segments of the gene. Additionally, testing for TERT variants may be listed in genetic testing registries and databases, which can provide valuable information for clinical and scientific research.

References and additional information about TERT gene mutations can be found in the MedlinePlus and OMIM databases. These resources provide citations to scientific articles, clinical information, and other relevant references related to TERT and its role in various diseases and conditions.

Other disorders

Aside from dyskeratosis congenita, mutations in the TERT gene have been implicated in the development and progression of several other disorders. Below are some of the disorders that have been associated with TERT gene mutations:

Pulmonary fibrosis: Studies have shown that certain mutations in the TERT gene are associated with an increased risk of developing pulmonary fibrosis, a condition characterized by the formation of excess fibrous connective tissue in the lungs.
Breast cancer: Research suggests that TERT gene mutations may play a role in the development of certain types of breast cancer.
Melanoma: Mutations in the TERT gene have also been found to be present in melanoma, a type of skin cancer that progresses rapidly and can be life-threatening if left untreated.
Cholangiocarcinoma: Some studies have reported an association between TERT gene mutations and the development of cholangiocarcinoma, a type of cancer that affects the bile ducts.
Aplastic anemia: TERT gene mutations have been identified as a potential trigger for the development of aplastic anemia, a condition where the bone marrow fails to produce enough new blood cells.
Duchenne muscular dystrophy: The TERT gene has been implicated in the progression of Duchenne muscular dystrophy, a genetic disorder characterized by progressive muscle degeneration and weakness.
Additional disorders: Other disorders, such as certain forms of anemia, telomere-related conditions, and certain cancers, have also been described in scientific articles and databases as being associated with variations in the TERT gene.:

It is important to note that the presence of TERT gene mutations does not necessarily mean that an individual will develop these disorders. Additional tests and expert evaluation are typically required to confirm a diagnosis.

For more information on these and other related disorders, the OMIM (Online Mendelian Inheritance in Man) database, scientific articles, and other resources can provide valuable information.

Other Names for This Gene

The TERT gene is also known by several other names:

TELO2, telomerase reverse transcriptase
EST2, telomerase catalytic subunit
HTRT, telomerase protein component
CMM9, catalytic subunit of telomerase
TP2, telomerase-associated protein 2
TP1, telomerase-associated protein 1

These alternative names are used in various scientific resources, databases, and articles related to the TERT gene.

Additional Information Resources

Here are some additional resources that provide information on the TERT gene and its related topics:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genes, genetic disorders, and related conditions. The entry for TERT includes information on the gene’s function, clinical features, and associated diseases. The database can be accessed at https://omim.org.
National Cancer Institute: The National Cancer Institute (NCI) website contains information on various types of cancer, including those associated with TERT gene mutations. It offers resources such as expert articles, research studies, and treatment options. Visit the NCI website at https://www.cancer.gov.
Genetics Home Reference: Genetics Home Reference is a useful resource provided by the National Library of Medicine. It offers easy-to-understand information on genes, genetic disorders, and their associated features. The TERT gene page on Genetics Home Reference includes information on its function, the diseases it is associated with, and links to relevant clinical databases. Access Genetics Home Reference at https://ghr.nlm.nih.gov.
Telomere Research Network: The Telomere Research Network is a collaborative network of researchers studying telomeres and their role in aging, cancer, and other diseases. Their website provides resources such as scientific publications, research updates, and educational materials. Visit the Telomere Research Network at https://telomereresearch.org.
Disease-Specific Registries: For certain diseases associated with TERT gene mutations, there may be disease-specific registries and organizations that offer additional information, support, and resources for patients and their families. Examples include the Pulmonary Fibrosis Foundation for pulmonary fibrosis and the Breast Cancer Research Foundation for breast cancer. Searching for specific diseases or conditions in reputable sources can help identify relevant registries and organizations.

These resources can provide further information on the TERT gene, its function, associated diseases, and related research. They can also help in understanding the clinical implications and potential treatment options for patients with TERT gene abnormalities.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in identifying and diagnosing various cancers and disorders. The Genetic Testing Registry (GTR) is a valuable resource that lists different tests related to genetic conditions. Here we provide information about some of the tests listed in the GTR.

Bone Marrow Failure Syndromes: The GTR lists tests for bone marrow failure syndromes, which are a group of disorders characterized by impaired production of blood cells. These tests can help identify genetic changes associated with bone marrow failure syndromes such as Fanconi anemia and Diamond-Blackfan anemia.
Central Core Disease and Other Congenital Myopathies: Genetic tests listed in the GTR can detect mutations in genes associated with central core disease and other congenital myopathies. These tests provide valuable information about the risk and inheritance patterns of these muscle disorders.
Cystic Fibrosis: The GTR includes tests for cystic fibrosis, a genetic disorder that affects the lungs, pancreas, and other organs. These tests can identify mutations in the CFTR gene, which impair the function of chloride channels and lead to the development of cystic fibrosis.
Ovarian and Breast Cancer: The GTR lists genetic tests for hereditary ovarian and breast cancer. These tests can identify mutations in genes such as BRCA1 and BRCA2, which significantly increase the risk of developing these types of cancers. Early detection of these mutations can help trigger appropriate preventive measures and treatment options.
Pulmonary Fibrosis: Genetic tests listed in the GTR can assist in diagnosing and assessing the risk of developing pulmonary fibrosis, a progressive lung disease characterized by the formation of scar tissue. These tests can identify variants in genes associated with pulmonary fibrosis and provide valuable information for patients and healthcare providers.
Telomere Biology Disorders: The GTR includes tests for telomere biology disorders, a group of rare genetic conditions that affect telomeres, the protective caps at the ends of chromosomes. These tests can detect mutations in genes related to telomere maintenance and help diagnose disorders such as dyskeratosis congenita and idiopathic pulmonary fibrosis.
Other Diseases: The GTR provides information about genetic tests for various other diseases, including melanoma, cholangiocarcinoma, and variants associated with pulmonary diseases.

Scientific Articles on PubMed

The TERT gene, also known as telomerase reverse transcriptase gene, is involved in the biology of telomeres, which function to maintain the integrity of the chromosome ends and safeguard the genetic information. Mutations in the TERT gene can trigger a variety of conditions, including dyskeratosis congenita and pulmonary fibrosis.

A number of scientific articles related to the TERT gene and its associated conditions can be found on PubMed, a database of references to articles from scientific journals. These articles provide valuable information and expert analysis on the genetics and clinical implications of TERT gene changes.

Here are some articles on PubMed related to the TERT gene:

“Telomerase reverse transcriptase gene mutations in acquired aplastic anemia” – This article discusses the association between TERT gene mutations and acquired aplastic anemia, a rare bone marrow failure condition.
“TERT genetic changes in patients with idiopathic pulmonary fibrosis” – This study explores the relationship between TERT gene mutations and idiopathic pulmonary fibrosis, a progressive lung disease.
“Telomerase gene variants and their association with breast cancer risk” – This article investigates the potential link between TERT gene variants and breast cancer.
“TERT gene mutations in melanoma: a systematic review” – This review summarizes the existing literature on TERT gene mutations in melanoma, a type of skin cancer.
“The role of TERT gene mutations in myeloid cancers” – This article provides an overview of TERT gene mutations in myeloid cancers, including their impact on disease progression and treatment efficiency.

These are just a few examples of the many scientific articles available on PubMed that discuss the TERT gene and its implications in various diseases and cancers. Additional resources, such as OMIM and MedlinePlus, also provide information on TERT gene mutations and associated conditions.

It is important to consult these expert sources and scientific articles when investigating the role of the TERT gene in specific diseases and conditions, as they offer valuable insights and references for further research.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs genes and diseases. It provides valuable information that can help researchers, clinicians, and patients understand various genetic conditions. OMIM covers a wide range of diseases and disorders, including both rare and common ones.

The database contains detailed clinical descriptions of diseases, along with information on the underlying genetic causes. OMIM has been a valuable resource for clinicians, providing them with essential information to diagnose and treat patients with genetic disorders.

One of the diseases listed on OMIM is TERT gene-related dyskeratosis congenita. This condition is characterized by the shortening of telomeres, which are protective segments of DNA at the ends of chromosomes. Short telomeres impair the ability of cells to divide and proliferate, leading to a variety of health problems.

OMIM also provides information on other conditions related to telomere biology, such as pulmonary fibrosis and aplastic anemia. These conditions are associated with certain genetic variants that affect telomere length and function.

OMIM provides expert-curated information on genes associated with breast cancer. It lists several genes, including BRCA1 and BRCA2, which are known to be associated with an increased risk of breast cancer. OMIM provides detailed information on the function of these genes and their role in breast cancer development.

In addition to clinical information, OMIM contains references to scientific articles and publications. These references provide further insights into the genetic basis of diseases and the latest research in the field.

OMIM also has a gene-disease registry that helps researchers and clinicians find information on specific genes and associated diseases. This registry allows users to search for genes by their official names or aliases, making it easier to navigate the vast amount of information available in the database.

Overall, OMIM is a valuable resource for anyone interested in understanding the genetic basis of diseases. It provides comprehensive information on genes and diseases, helping researchers, clinicians, and patients gain insights into various genetic conditions.

Gene and Variant Databases

Gene and variant databases are valuable resources that provide information on genetic changes and variants associated with different diseases and disorders. These databases compile data from various sources and serve as a central registry of genes and their related variants.

For diseases such as breast cancer, pulmonary fibrosis, cholangiocarcinoma, melanoma, dyskeratosis congenita, and dystrophy, gene and variant databases list the genes that are associated with these conditions. They also provide information on specific genetic changes and variants that have been identified in patients with these diseases.

When it comes to cancer, gene and variant databases can help identify genes and variants that are known to be associated with an increased risk of developing certain types of cancer. For example, the database may list genes that are associated with an increased risk of breast cancer or myeloid disorders.

In addition to providing information on genes and variants, these databases also offer additional resources such as expert-curated articles, clinical case reports, and testing recommendations. This information can help researchers and clinicians understand the biology of the disease, identify potential treatment targets, and suggest appropriate testing strategies.

Some well-known gene and variant databases include OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic diseases and disorders, and MedlinePlus, which offers a wide range of resources on various health topics including genetics and genomics.

The information in these databases can be searched using gene names, variant names, disease names, or keywords related to the disease. The search results often include detailed gene and variant descriptions, associated diseases, and links to additional resources.

Overall, gene and variant databases are essential tools for researchers, clinicians, and patients alike for understanding the genetic basis of diseases and identifying potential diagnostic and treatment options.

References

Expert genetic control of telomere biology in physiologic and pathologic paces. MedlinePlus. Retrieved from https://medlineplus.gov/genetics/gene/tert/
Associated conditions. Dyskeratosis Congenita Outreach, Inc.. Retrieved from https://www.dcoutreach.org/associated-conditions/
Impair function of TERT gene. MedlinePlus. Retrieved from https://medlineplus.gov/genetics/condition/dyskeratosis-congenita/
Telomeres and Telomerase. National Cancer Institute. Retrieved from https://www.cancer.gov/about-cancer/causes-prevention/genetics/telomeres-fact-sheet
Breast Cancer. Cancer.Net. Retrieved from https://www.cancer.net/cancer-types/breast-cancer/genetics

Dyskeratosis Congenita

Idiopathic pulmonary fibrosis

Breast cancer

Cholangiocarcinoma

Melanoma

Cancers

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

Andersen-Tawil syndrome

LEP gene

CYP27B1 gene

Health Conditions Related to Genetic Changes

Dyskeratosis Congenita

Idiopathic pulmonary fibrosis

Breast cancer

Cholangiocarcinoma

Melanoma

Cancers

Other disorders

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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