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Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts |
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| Authors: | Uyenlinh L Mirshahi Kevin Colclough Caroline F Wright Andrew R Wood Robin N Beaumont Jessica Tyrrell Thomas W Laver Richard Stahl Alicia Golden Jessica M Goehringer Geisinger-Regeneron DiscovEHR Collaboration Timothy F Frayling Andrew T Hattersley David J Carey Michael N Weedon Kashyap A Patel |
| Affiliation: | 1. Geisinger Clinic, Geisinger Health System, Danville, PA, USA;2. Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK;3. Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK |
| Abstract: | |
| Keywords: | monogenic diabetes monogenic disease MODY HNF1A HNF4A GCK prevalence penetrance population screening ACMG variant curation |
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