Article

Systematic analysis of loss-of-function variants across MODY genes demonstrates gene- and NMD-specific effects and identifies NMD-escape <i>INS</i> variants as a novel cause of MODY

2025-09-08

Abstract excerpt

<h4>Aims/hypothesis</h4> Accurate interpretation of loss-of-function (LOF) variants in MODY genes is essential for diagnosis but remains challenging, particularly for variants predicted to escape nonsense-mediated decay (NMD). We aimed to systematically evaluate the pathogenicity of LOF variants, stratified by NMD-triggering and NMD-escape status, across all known MODY genes. <h4>Methods</h4> We analysed ultra-r...

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Literature Corpus work: 53038bcb-1dac-54f3-963b-38924ab391f7
DOI: 10.1101/2025.09.07.25334427

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