ClinVar: improving access to variant interpretations and supporting evidence

ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, public archive of human genetic variants and interpretations of their significance to disease, maintained at the National Institutes of Health. Interpretations of the clinical significance of variants are submitted by clinical te...

Descripción completa

Detalles Bibliográficos
Autores principales: Landrum, Melissa J, Lee, Jennifer M, Benson, Mark, Brown, Garth R, Chao, Chen, Chitipiralla, Shanmuga, Gu, Baoshan, Hart, Jennifer, Hoffman, Douglas, Jang, Wonhee, Karapetyan, Karen, Katz, Kenneth, Liu, Chunlei, Maddipatla, Zenith, Malheiro, Adriana, McDaniel, Kurt, Ovetsky, Michael, Riley, George, Zhou, George, Holmes, J Bradley, Kattman, Brandi L, Maglott, Donna R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Database Issue
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753237/
https://www.ncbi.nlm.nih.gov/pubmed/29165669
http://dx.doi.org/10.1093/nar/gkx1153

Ejemplares similares

Ejemplares similares