Blar i Department of Clinical Science på forfatter "Udler, Miriam"
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Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes
Kuznetsova, Ksenia; Vasicek, Jakub; Skiadopoulou, Dafni; Molnes, Janne; Udler, Miriam; Johansson, Stefan; Njølstad, Pål Rasmus; Manning, Alisa; Vaudel, Marc (Journal article; Peer reviewed, 2024)Monogenic diabetes is characterized as a group of diseases caused by rare variants in single genes. Like for other rare diseases, multiple genes have been linked to monogenic diabetes with different measures of pathogenicity, ...