Article
Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report.
The American journal of case reports - 11 Dec 2020
Koeller Diane R, Schwartz Alison, Manning Danielle K, Dong Fei, Lindeman Neal I, Garber Judy E, Ghazani Arezou A
Abstract excerpt
BACKGROUND The diagnoses of adenomatous polyposis coli (APC)-associated polyposis conditions are typically based on suggestive personal features and/or family history, and the identification of a pathogenic variant in the APC gene. However, with large-scale genome sequencing, it is now possible to identify pathogenic variants before or even without the presentation of the expected clinical features. This case...
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