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Article

Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.

Journal of human genetics - 1 Feb 2017

Ricci Maria Teresa, Miccoli Sara, Turchetti Daniela, Bondavalli Davide, Viel Alessandra, Quaia Michele, Giacomini Elisa, Gismondi Viviana, Sanchez-Mete Lupe, Stigliano Vittoria, Martayan Aline, Mazzei Filomena, Bignami Margherita, Bonelli Luigina, Varesco Liliana

Abstract excerpt

To determine prevalence, spectrum and genotype-phenotype correlations of MUTYH variants in Italian patients with suspected MAP (MUTYH-associated polyposis), a retrospective analysis was conducted to identify patients who had undergone MUTYH genetic testing from September 2002 to February 2014. Results of genetic testing and patient clinical characteristics were collected (gender, number of polyps, age at polyp...

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Source

Identifiers

PMID: 27829682
DOI: 10.1038/jhg.2016.132

Genes

MUTYH

Variants

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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