Article

Contribution of Rare Large High-Penetrance CNVs to Pediatric and MODY Diabetes in Norway

2025-02-28

Abstract excerpt

Technological advancements have significantly improved our understanding of Copy Number Variants (CNVs) and their role in disease. However, detecting CNVs in clinical diagnostics remains challenging, and important pathogenic CNVs may go undetected. This study systematically assessed the impact of rare, large, high-penetrance CNVs on pediatric diabetes and Maturity-onset Diabetes of the Young (MODY) in Norway. We a...

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Literature Corpus work: ddaeab1c-6840-5b69-9395-b97b54bb04c4
DOI: 10.1101/2025.02.25.25322584

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