Article

A protein truncating R179X variant in <i>RNF186</i> confers protection against ulcerative colitis

2015-12-23

Abstract excerpt

We conducted a search for protein truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease. We found that a protein truncating variant (rs36095412, p.R179X, genotyped in 11,148 ulcerative colitis patients and 295,446 controls, MAF = up to 0.78%) in RNF186 , a single-exon ring finger E3 ligase with strong colonic expressio...

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Literature Corpus work: bc662c1d-956f-5a38-978d-496d153e3029
DOI: 10.1101/035105

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