Article

Investigating the pathogenicity of the recessive <i>HNF1A</i> p.A251T variant in monogenic diabetes using iPSC-derived beta-like cells

2024-12-11

Abstract excerpt

Monogenic diabetes, formerly called Maturity-Onset Diabetes of the Young (MODY), involves single-gene mutations, typically with dominant inheritance, and has been associated with variants in 14 genes. Among these, HNF1A mutations are the most common, and their diagnosis allows the use of alternative therapies, including sulfonylureas. In an earlier study, we described a variant displaying recessive transmission,...

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Literature Corpus work: d9e763f4-2ed4-5e1e-9946-c59bf53430a1
DOI: 10.1101/2024.12.10.24318788

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