Articles with "clinvar database" as a keyword



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

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Published in 2019 at "Nucleic Acids Research"

DOI: 10.1093/nar/gkz411

Abstract: Abstract 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… read more here.

Keywords: clinvar database; disease; web server; gene disease ... See more keywords