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

Autor: Althari S; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK., Najmi LA; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway; Department of Medicine, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305-5101, USA., Bennett AJ; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK., Aukrust I; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway., Rundle JK; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK., Colclough K; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX1 2LU, UK; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK., Molnes J; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, 5021 Bergen, Norway., Kaci A; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Pediatrics and Adolescents, Haukeland University Hospital, 5021 Bergen, Norway., Nawaz S; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK., van der Lugt T; Hormone Laboratory, Haukeland University Hospital, 5021 Bergen, Norway., Hassanali N; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK., Mahajan A; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Molven A; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Clinical Medicine, University of Bergen, 5020 Bergen, Norway; Department of Pathology, Haukeland University Hospital, 5021 Bergen, Norway., Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX1 2LU, UK; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK., McCarthy MI; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford OX3 7LE, UK., Bjørkhaug L; Department of Safety, Chemistry, and Biomedical Laboratory Sciences, Western Norway University of Applied Sciences, 5020 Bergen, Norway., Njølstad PR; Center for Diabetes Research, Department of Clinical Science, University of Bergen, 5020 Bergen, Norway; Department of Pediatrics and Adolescents, Haukeland University Hospital, 5021 Bergen, Norway. Electronic address: pal.njolstad@uib.no., Gloyn AL; Oxford Centre for Diabetes, Endocrinology & Metabolism, University of Oxford, Oxford OX3 7LE, UK; Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; Oxford NIHR Biomedical Research Centre, Churchill Hospital, Oxford OX3 7LE, UK; Division of Endocrinology, Department of Pediatrics, Stanford School of Medicine, Stanford University, Stanford, CA 94305-5101, USA.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Oct 01; Vol. 107 (4), pp. 670-682. Date of Electronic Publication: 2020 Sep 09.