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Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database

Clinical genetic testing has exponentially expanded in recent years, leading to an overwhelming amount of patient variants with high variability in pathogenicity and heterogeneous phenotypes. A large part of the variant level data is aggregated in public databases such as ClinVar. However, the abili...

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Détails bibliographiques
Publié dans:Nucleic Acids Res
Auteurs principaux: Pérez-Palma, Eduardo, Gramm, Marie, Nürnberg, Peter, May, Patrick, Lal, Dennis
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2019
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6602488/
https://ncbi.nlm.nih.gov/pubmed/31114901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkz411
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