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Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.

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第一作者: Siddharth,Banka
第一单位: Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.;Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
作者单位: Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.;Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester M13 9WL, UK. [1] Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK. [2] Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.;Cell Signalling Group, Cancer Research UK Manchester Institute, The University of Manchester, Alderley Park, Macclesfield SK10 4TG, UK. [3] Department of Pediatrics, UZ Brussel, Brussels, Belgium.;Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium. [4] Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.;School of Biochemistry, University of Bristol, Bristol BS8 1TD, UK. [5] Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.;Advanced Medical and Dental Institute, Universiti Sains Malaysia, 13200 Kepala Batas, Penang, Malaysia. [6] Division of Clinical Genetics, Columbia University Medical Center, New York 10032, USA. [7] Department of Pediatrics, School of Medicine, Kingston General Hospital, Queen's University, Kingston, ON, Canada. [8] Centre for Medical Genetics, UZ Brussel, Brussels, Belgium. [9] MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, UK. [10] Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA. [11] Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.;Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium. [12] HudsonAlpha Clinical Services Lab, Huntsville, AL, USA. [13] Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA. [14] Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. [15] Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.;Centre for Medical Genetics, UZ Brussel, Brussels, Belgium. [16] Cell Signalling Group, Cancer Research UK Manchester Institute, The University of Manchester, Alderley Park, Macclesfield SK10 4TG, UK. [17] Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. [18]
DOI 10.1093/brain/awac049
PMID 35139179
发布时间 2025-05-30
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Brain : a journal of neurology

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