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
Author(s) -
Diane R. Koeller,
Alison Schwartz,
Danielle K. Manning,
Fei Dong,
Neal I. Lindeman,
Judy E. Garber,
Arezou A. Ghazani
Publication year - 2020
Publication title -
american journal of case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
ISSN - 1941-5923
DOI - 10.12659/ajcr.927293
Subject(s) - adenomatous polyposis coli , medicine , familial adenomatous polyposis , family history , genetic testing , colorectal cancer , phenotype , germline mutation , genetics , cancer , gene , mutation , biology
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