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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Nucleic Acids Res
Päätekijät: Pérez-Palma, Eduardo, Gramm, Marie, Nürnberg, Peter, May, Patrick, Lal, Dennis
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Oxford University Press 2019
Aiheet:
Linkit: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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