Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

Eitemau Tebyg

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• 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
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• Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene
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