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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發表在: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.
格式: Artigo
語言:Inglês
出版: Oxford University Press 2016
主題:
Database Issue
在線閱讀: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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