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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Detaylı Bibliyografya
Yayımlandı:Nucleic Acids Res
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2018
Konular:
Database Issue
Online Erişim: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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