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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Foilsithe in:Nucleic Acids Res
Main Authors: 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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: Oxford University Press 2016
Ábhair:
Database Issue
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4702865/
https://ncbi.nlm.nih.gov/pubmed/26582918
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkv1222
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