ClinVar: public archive of interpretations of clinically relevant variants

ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) at the National Center for Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical significance of variants for reported conditions. The database includes germline and somatic variants of any size, type or genomic...

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Detalles Bibliográficos
Autores principales: Landrum, Melissa J., Lee, Jennifer M., Benson, Mark, Brown, Garth, Chao, Chen, Chitipiralla, Shanmuga, Gu, Baoshan, Hart, Jennifer, Hoffman, Douglas, Hoover, Jeffrey, Jang, Wonhee, Katz, Kenneth, Ovetsky, Michael, Riley, George, Sethi, Amanjeev, Tully, Ray, Villamarin-Salomon, Ricardo, Rubinstein, Wendy, Maglott, Donna R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Database Issue
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4702865/
https://www.ncbi.nlm.nih.gov/pubmed/26582918
http://dx.doi.org/10.1093/nar/gkv1222

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