Role of a Rare Variant in APC Gene Promoter 1B Region in Classic Familial Adenomatous Polyposis
Journal：DIGESTION
IF：2.69
DOI：10.1159/000509234
PMID：32702694
Published：2020-07-23
research field：肿瘤学分子生物学毒理学药理学自噬研究代谢学生物化学
Abstract
Familial adenomatous polyposis (FAP) is most commonly caused by germline variants in the adenomatous polyposis coli (APC) gene. Although definite pathogenic variants could be detected in the majority of individuals with FAP, there are still numerous variant-negative FAP patients.
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