Article

Intestinal somatic mutations in inflammatory bowel disease patients are enriched in very early onset IBD and primary immunodeficiency genes

2024-12-11

Abstract excerpt

The genetic predisposition of Inflammatory bowel disease (IBD) in the germline is well-established, while the potential role of somatic mutations in IBD remains underexplored. We aim to identify somatic mutations in intestinal mucosa and study their potential role in IBD pathogenesis. We identified somatic mutations using 538 intestinal biopsies and 268 blood samples from 268 IBD patients and 51 intestinal biopsie...

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Literature Corpus work: 1d8f6667-0714-50b9-95bd-e189363be2ce
DOI: 10.1101/2024.12.09.24318484

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