Article

Germline Variants in Russian Patients with MUTYH-Associated Polyposis

2026-08-01

Abstract excerpt

Abstract The analysis of 50 patients with a clinical diagnosis of MUTYH-associated polyposis (more than 20 colorectal polyps) with genetic confirmation was conducted. Twenty-six different pathogenic/likely pathogenic variants were detected in the MUTYH gene, including four new ones. A predominance of four variants was demonstrated: c.1103G>A (p.Gly368Asp), c.650G>A (p.Arg217His), c.452A>G (p.Tyr151Cys), c.464G>A (...

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Literature Corpus work: f592f91a-7f28-5031-ba41-8a7fe813c97a
DOI: 10.1134/s102279542670047x

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