Article

Cystic fibrosis risk variants confer protection against inflammatory bowel disease

2024-12-05

Abstract excerpt

Genetic mutations that yield defective cystic fibrosis transmembrane regulator ( CFTR ) protein cause cystic fibrosis, a life-limiting autosomal recessive Mendelian disorder. A protective role of CFTR loss-of-function mutations in inflammatory bowel disease (IBD) has been suggested, but its evidence has been inconclusive and contradictory. Here, leveraging the largest IBD exome sequencing dataset to date, comprisi...

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Literature Corpus work: 4574408c-90ea-5345-a855-01ac3309b5e0
DOI: 10.1101/2024.12.02.24318364

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