Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation

Exome sequencing in diabetes presents a diagnostic challenge because depending on frequency, functional impact, and genomic and environmental contexts, HNF1A variants can cause maturity-onset diabetes of the young (MODY), increase type 2 diabetes risk, or be benign. A correct diagnosis matters as it...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Althari, Sara, Najmi, Laeya A., Bennett, Amanda J., Aukrust, Ingvild, Rundle, Jana K., Colclough, Kevin, Molnes, Janne, Kaci, Alba, Nawaz, Sameena, van der Lugt, Timme, Hassanali, Neelam, Mahajan, Anubha, Molven, Anders, Ellard, Sian, McCarthy, Mark I., Bjørkhaug, Lise, Njølstad, Pål Rasmus, Gloyn, Anna L.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7536579/
https://ncbi.nlm.nih.gov/pubmed/32910913
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.08.016
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