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| Inflammatory bowel disease v0.126 | OTUD3 |
Peter McNaughton gene: OTUD3 was added gene: OTUD3 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: OTUD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OTUD3 were set to PMID: 41067575 Phenotypes for gene: OTUD3 were set to Ulcerative colitis Review for gene: OTUD3 was set to AMBER Added comment: Multigenerational family with a medically refractory colitis phenotype permitted identification of the A143T missense mutation in OTUD3 as the causal variant. Murine model replicating phenotype and demonstrating impaired intestinal barrier function. Amber for single kindred. Sources: Literature |
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