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Article

Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.

Inflammatory bowel diseases - 1 Oct 2016

Ashton James J, Andreoletti Gaia, Coelho Tracy, Haggarty Rachel, Batra Akshay, Afzal Nadeem A, Beattie R Mark, Ennis Sarah

Abstract excerpt

BACKGROUND: Most cases of inflammatory bowel disease (IBD) are caused by complex host-environment interaction. There are a number of conditions associated with a single-gene mutation, most cases are very early onset (aged < 6 yr), present with a unique form of disease and often have atypical features. METHODS: Whole-exome data for 147 pediatric patients with IBD were interrogated for a panel of 51 genes...

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Source

Identifiers

PMID: 27537055
DOI: 10.1097/MIB.0000000000000890

Genes

XIAP
FERMT1
CYBA
LIG4

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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