A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland

BACKGROUND: The genetic disease architecture of Inuit includes a large number of common high-impact variants. Identification of such variants contributes to our understanding of the genetic aetiology of diseases and improves global equity in genomic personalised medicine. We aimed to identify and ch...

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Detalles Bibliográficos
Autores principales: Thuesen, Anne Cathrine Baun, Stæger, Frederik Filip, Kaci, Alba, Solheim, Marie Holm, Aukrust, Ingvild, Jørsboe, Emil, Santander, Cindy G., Andersen, Mette K., Li, Zilong, Gilly, Arthur, Stinson, Sara Elizabeth, Gjesing, Anette Prior, Bjerregaard, Peter, Pedersen, Michael Lynge, Larsen, Christina Viskum Lytken, Grarup, Niels, Jørgensen, Marit E., Zeggini, Eleftheria, Bjørkhaug, Lise, Njølstad, Pål Rasmus, Albrechtsen, Anders, Moltke, Ida, Hansen, Torben
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9832271/
https://www.ncbi.nlm.nih.gov/pubmed/36649380
http://dx.doi.org/10.1016/j.lanepe.2022.100529

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