Blar i Department of Clinical Science på tidsskrift "American Journal of Human Genetics"
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Unsupervised clustering of missense variants in HNF1A using multidimensional functional data aids clinical interpretation
(Journal article; Peer reviewed, 2020-10-01)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), ...