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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...

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書目詳細資料
發表在:Nucleic Acids Res
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Oxford University Press 2018
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5753237/
https://ncbi.nlm.nih.gov/pubmed/29165669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkx1153
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