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Article

MUTYH gene expression and alternative splicing in controls and polyposis patients.

Human mutation - 1 Jul 2012

Plotz Guido, Casper Markus, Raedle Jochen, Hinrichsen Inga, Heckel Verena, Brieger Angela, Trojan Jörg, Zeuzem Stefan

Abstract excerpt

Mutational loss of the human DNA repair gene MUTYH in the germline predisposes for colorectal polyposis and cancer, a recessively heritable disease called MUTYH-associated polyposis. The MUTYH gene shows heavy alternative splicing, but the transcripts relevant for biological function and cancer p...

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Source

Identifiers

PMID: 22473953
DOI: 10.1002/humu.22059

Genes

MUTYH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22473953-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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