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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Nucleic Acids Res
Hauptverfasser: Pérez-Palma, Eduardo, Gramm, Marie, Nürnberg, Peter, May, Patrick, Lal, Dennis
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2019
Schlagworte:
Online Zugang: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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