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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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Uloženo v:
Podrobná bibliografie
Vydáno v:Nucleic Acids Res
Hlavní autoři: Pérez-Palma, Eduardo, Gramm, Marie, Nürnberg, Peter, May, Patrick, Lal, Dennis
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2019
Témata:
On-line přístup: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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