Article
Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of multiple cardiovascular disease risk factors
2022-03-30
Abstract excerpt
Loss-of-function mutations in Hepatocyte Nuclear Factor 1A (HNF1A) are known to cause rare forms of diabetes and alter hepatic physiology through unclear mechanisms. In the general population, 1:100 individuals carry a rare protein-coding variant in HNF1A , most of unknown functional consequence. To characterize the full allelic series, we performed deep mutational scanning of 11,970 protein-coding HNF1A variants...
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Identifiers and source
- Literature Corpus work
- ff9c90bf-3e27-5f69-997f-ebc8654c24cb
- DOI
- 10.1101/2022.03.29.22273133