Article
Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants.
The Journal of clinical endocrinology and metabolism - 1 Apr 2020
Malikova Jana, Kaci Alba, Dusatkova Petra, Aukrust Ingvild, Torsvik Janniche, Vesela Klara, Kankova Pavla Dvorakova, Njølstad Pål R, Pruhova Stepanka, Bjørkhaug Lise
Abstract excerpt
CONTEXT: While rare variants of the hepatocyte nuclear factor-1 alpha (HNF1A) gene can cause maturity-onset diabetes of the young (HNF1A-MODY), other variants can be risk factors for the development of type 2 diabetes. As has been suggested by the American College of Medical Genetics (ACMG) guidelines for variant interpretation, functional studies provide strong evidence to classify a variant as pathogenic....
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