ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

PURPOSE: Proper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental prerequisite to accurate variant interpretation is the clear understanding of the clinical validity of gene-disease relationships. The Clinical Genome...

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Detalles Bibliográficos
Autores principales: DiStefano, Marina T., Hemphill, Sarah E., Oza, Andrea M., Siegert, Rebecca K., Grant, Andrew R., Hughes, Madeline Y., Cushman, Brandon J., Azaiez, Hela, Booth, Kevin T., Chapin, Alex, Duzkale, Hatice, Matsunaga, Tatsuo, Shen, Jun, Zhang, Wenying, Kenna, Margaret, Schimmenti, Lisa A., Tekin, Mustafa, Rehm, Heidi L., Tayoun, Ahmad N. Abou, Amr, Sami S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7280024/
https://www.ncbi.nlm.nih.gov/pubmed/30894701
http://dx.doi.org/10.1038/s41436-019-0487-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7280024/
https://www.ncbi.nlm.nih.gov/pubmed/30894701
http://dx.doi.org/10.1038/s41436-019-0487-0

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