Article
Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data.
Cold Spring Harbor molecular case studies - 1 Jan 2022
Hernandez Felicia, Conner Blair R, Richardson Marcy E, LaDuca Holly, Chao Elizabeth, Pesaran Tina, Karam Rachid
Abstract excerpt
MUTYH-associated polyposis (MAP) is an autosomal recessive disorder characterized by the development of multiple adenomatous colonic polyps and an increased lifetime risk of colorectal cancer. Germline biallelic pathogenic variants in MUTYH are responsible for MAP. The MUTYH c.934-2A > G (NM_001128425.1) variant, which is also known as c.850-2A > G for NM_001048174.2, has been identified in our laboratory in more...
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