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Article

Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative Colitis.

Journal of Crohn's & colitis - 28 Feb 2018

Onoufriadis Alexandros, Stone Kristina, Katsiamides Antreas, Amar Ariella, Omar Yasmin, de Lange Katrina M, Taylor Kirstin, Barrett Jeffrey C, Pollok Richard, Hayee Bu'Hussain, Mansfield John C, Sanderson Jeremy D, Simpson Michael A, Mathew Christopher G, Prescott Natalie J

Abstract excerpt

BACKGROUND AND AIMS: Although genome-wide association studies [GWAS] in inflammatory bowel disease [IBD] have identified a large number of common disease susceptibility alleles for both Crohn's disease [CD] and ulcerative colitis [UC], a substantial fraction of IBD heritability remains unexplained, suggesting that rare coding genetic variants may also have a role in pathogenesis. We used high-throughput...

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Source

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Identifiers

PMID: 29211899
DOI: 10.1093/ecco-jcc/jjx157
PMCID: PMC6290881

Genes

NLRP7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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