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：毒理学癌症研究药理学生物医学工程器官芯片微流控技术
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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