Biomedicines
Deciphering the Causative Role of a Novel APC Gene Variant in Attenuated Familial Adenomatous Polyposis Using Germline DNA-RNA Paired Testing.
Giovanna Forte, Candida Fasano, Matteo Iacoviello, Valentina Grossi, Martina Lepore Signorile, Katia De Marco, Paola Sanese, Antonia Lucia Buonadonna, Andrea Manghisi, Nicoletta Maria Tutino, Vittoria Disciglio, Cristiano Simone
Published: 202610.3390/biomedicines14010087
Abstract
Background/Objectives: Familial adenomatous polyposis (FAP) is an autosomal dominant disorder caused by pathogenic variants in the adenomatous polyposis coli (APC) gene. Its attenuated form (AFAP) is characterized by fewer colorectal polyps and later…
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