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