Leiden Open Variation Database of the MUTYH gene.

doi:10.1002/humu.21343

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Leiden Open Variation Database of the MUTYH gene.

Human mutation - 1 Nov 2010

Out Astrid A, Tops Carli M J, Nielsen Maartje, Weiss Marjan M, van Minderhout Ivonne J H M, Fokkema Ivo F A C, Buisine Marie-Pierre, Claes Kathleen, Colas Chrystelle, Fodde Riccardo, Fostira Florentia, Franken Patrick F, Gaustadnes Mette, Heinimann Karl, Hodgson Shirley V, Hogervorst Frans B L, Holinski-Feder Elke, Lagerstedt-Robinson Kristina, Olschwang Sylviane, van den Ouweland Ans M W, Redeker Egbert J W, Scott Rodney J, Vankeirsbilck Bruno, Grønlund Rikke Veggerby, Wijnen Juul T, Wikman Friedrik P, Aretz Stefan, Sampson Julian R, Devilee Peter, den Dunnen Johan T, Hes Frederik J

Abstract excerpt

The MUTYH gene encodes a DNA glycosylase involved in base excision repair (BER). Biallelic pathogenic MUTYH variants have been associated with colorectal polyposis and cancer. The pathogenicity of a few variants is beyond doubt, including c.536A4G/p.Tyr179Cys and c.1187G4A/p.Gly396Asp (previously...

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Identifiers

PMID: 20725929
DOI: 10.1002/humu.21343

Genes

MUTYH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20725929-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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