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Article

Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

Human mutation - 1 Nov 2004

Aretz Stefan, Uhlhaas Siegfried, Sun Yuli, Pagenstecher Constanze, Mangold Elisabeth, Caspari Reiner, Möslein Gabriela, Schulmann Karsten, Propping Peter, Friedl Waltraut

Abstract excerpt

Familial adenomatous polyposis (FAP) is caused by germline mutations in the tumor suppressor gene APC. To date, the relevance of rare exonic single-base substitutions at nucleotide positions close to splice sites that are predicted to result in missense or silent (SNP) variants or substitutions in introns at splice-site positions that are not highly conserved has not been systematically examined in FAP patients....

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Source

Identifiers

PMID: 15459959
DOI: 10.1002/humu.20087

Genes

APC
FAP

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

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