Articles with "gnomad" as a keyword



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Concern regarding classification of germline TP53 variants as likely pathogenic

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Published in 2019 at "Human Mutation"

DOI: 10.1002/humu.23750

Abstract: To the Editor, We read with some concern the recent article in Human Mutation on the frequency of potentially actionable germline variants in the TP53 gene (de Andrade et al., 2019). A prevalence estimate, including… read more here.

Keywords: classification; likely pathogenic; frequency; pathogenicity ... See more keywords