Article
Diseases Common in Persons With Cystic Fibrosis Among CFTR Heterozygotes.
JAMA internal medicine - 1 Aug 2025
Zeng Chenjie, Han Sangwoo T, Cassini Thomas A, Raraigh Karen S, Tran Tam C, Yang James, Cutting Garry R, Denny Joshua C
Abstract excerpt
Importance: Cystic fibrosis is one of the most commonly diagnosed autosomal recessive disorders in the US. It is estimated that more than 10 million individuals are heterozygous for a pathogenic CFTR gene variant in the US (heterozygotes). The phenotypic risk of these heterozygotes is not well defined, particularly among populations of predominantly non-European genetic ancestry. Understanding disease risk across...
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