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Diabetes & Endocrinology

Enhancing MODY Diagnosis: The Clinical Value of Type 1 Diabetes Genetic Risk Scoring in Routine Genetic Testing

Incorporating a type 1 diabetes genetic risk score into MODY genetic testing helps identify misdiagnosed T1D cases, particularly in children, optimizing diagnostic accuracy and reducing unnecessary testing.

Aug 19, 2026Sign in to read
Diabetes & Endocrinology

Beyond Haploinsufficiency: How Nonsense-Mediated Decay Escape Redefines MODY Diagnosis and Identifies Novel INS Variants

A systematic analysis reveals that the pathogenicity of loss-of-function variants in MODY genes is gene-specific and dependent on nonsense-mediated decay status. Crucially, NMD-escape variants in the INS gene represent a novel, clinically d

Mar 6, 2026

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