Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts

The true prevalence and penetrance of monogenic disease variants are often not known because of clinical-referral ascertainment bias. We comprehensively assess the penetrance and prevalence of pathogenic variants in HNF1A, HNF4A, and GCK that account for >80% of monogenic diabetes. We analyzed cl...

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Detalles Bibliográficos
Autores principales: Mirshahi, Uyenlinh L, Colclough, Kevin, Wright, Caroline F, Wood, Andrew R, Beaumont, Robin N, Tyrrell, Jessica, Laver, Thomas W, Stahl, Richard, Golden, Alicia, Goehringer, Jessica M, Frayling, Timothy F, Hattersley, Andrew T, Carey, David J, Weedon, Michael N, Patel, Kashyap A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674944/
https://www.ncbi.nlm.nih.gov/pubmed/36257325
http://dx.doi.org/10.1016/j.ajhg.2022.09.014

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674944/
https://www.ncbi.nlm.nih.gov/pubmed/36257325
http://dx.doi.org/10.1016/j.ajhg.2022.09.014

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