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Article

A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays.

Clinical genetics - 1 Feb 2015

Thompson B A, Martins A, Spurdle A B

Abstract excerpt

Many mismatch repair (MMR) gene disease-causing mutations identified in cancer patients result in aberrant messenger RNA (mRNA) splicing. However, mRNA assay interpretation can be complicated by the existence of naturally occurring alternative mRNA transcripts, most of which have not been formally described or fully characterized. Here, we provide a comprehensive catalogue of all MMR transcripts described to...

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Topics

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Share to Adenosine Triphosphatases
Share to Alternative Splicing
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mismatch Repair

Share to DNA Repair Enzymes

Share to Mismatch Repair Endonuclease PMS2

Share to MutL Protein Homolog 1

Share to MutS Homolog 2 Protein

Source

Identifiers

PMID: 24989436
DOI: 10.1111/cge.12450

Genes

MLH1
MSH2
PMS2
MSH6

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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