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Population prevalence, penetrance, and mortality for genetically confirmed MODY

2025-06-30 endocrinology Title + abstract only
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ContextDiagnosing Maturity-Onset Diabetes of the Young (MODY) is clinically important for treatment and prognosis. However, phenotype-based studies of MODY are prone to ascertainment bias, limiting accurate estimates of its population prevalence and phenotypic spectrum. ObjectiveTo apply a genotype-first approach to determine the population prevalence, penetrance, and all-cause mortality associated with MODY. MethodsWe analysed exome sequencing and clinical data from 454,275 UK Biobank partici...

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