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Article

Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.

European journal of human genetics : EJHG - 1 Oct 2007

Nielsen Maartje, Bik Elsa, Hes Frederik J, Breuning Martijn H, Vasen Hans F A, Bakker Egbert, Tops Carli M J, Weiss Marjan M

Abstract excerpt

Partial and whole gene deletions represent a large proportion (4-33%) of the APC mutations found in polyposis patients, who previously had negative test results. The genotype-phenotype correlations for these APC deletions have not been studied in detail. We aimed to assess the number of germ line...

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Source

Identifiers

PMID: 17568392
DOI: 10.1038/sj.ejhg.5201871

Genes

APC
FAP
MUTYH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17568392-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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