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Article

Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population.

Human mutation - 1 Apr 2016

Shinmura Kazuya, Kato Hisami, Goto Masanori, Yamada Hidetaka, Tao Hong, Nakamura Satoki, Sugimura Haruhiko

Abstract excerpt

Biallelic germline mutations of MUTYH, the gene encoding DNA glycosylase, cause MUTYH-associated polyposis (MAP), characterized by multiple colorectal adenomas and carcinoma(s). However, a considerable number of MUTYH variants are still functionally uncharacterized. Herein, we report the results of functional evaluation of nine missense-type MUTYH variant proteins in the Japanese population. The DNA glycosylase...

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Source

Identifiers

PMID: 26694661
DOI: 10.1002/humu.22949

Genes

MUTYH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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