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Article

Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

Human mutation - 1 Dec 2015

Niroula Abhishek, Vihinen Mauno

Abstract excerpt

Variations in mismatch repair (MMR) system genes are causative of Lynch syndrome and other cancers. Thousands of variants have been identified in MMR genes, but the clinical relevance is known for only a small proportion. Recently, the InSiGHT group classified 2,360 MMR variants into five classes. One-third of variants, majority of which is nonsynonymous variants, remain to be of uncertain clinical relevance....

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Identifiers

PMID: 26333163
DOI: 10.1002/humu.22900

Genes

MCC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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