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Article

Identification and In Silico Characterization of a Novel COLGALT2 Gene Variant in a Child with Mucosal Rectal Prolapse.

International journal of molecular sciences - 27 Mar 2022

Sadakierska-Chudy Anna, Szymanowski Paweł, Lebioda Arleta, Płoski Rafał

Abstract excerpt

Rectal prolapse is influenced by many factors including connective tissue dysfunction. Currently, there is no data about genetic contribution in the etiology of this disorder. In this study, we performed trio whole-exome sequencing in an 11-year-old girl with mucosal rectal prolapse and her parents and sibling. Genetic testing revealed a novel heterozygous missense variant c.1406G>T; p.G469V in exon 11 of the...

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Identifiers

PMID: 35409030
DOI: 10.3390/ijms23073670
PMCID: PMC8999070

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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