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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536579/
https://www.ncbi.nlm.nih.gov/pubmed/32910913
http://dx.doi.org/10.1016/j.ajhg.2020.08.016

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7536579/
https://www.ncbi.nlm.nih.gov/pubmed/32910913
http://dx.doi.org/10.1016/j.ajhg.2020.08.016

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