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Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.

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第一作者: Denisa,Weis
第一单位: Department of Medical Genetics, Kepler University Hospital, School of Medicine, Johannes Kepler University, Linz, Austria.;Department of Pediatrics, Faculty of Medicine, Comenius University Bratislava and National Institute of Children's Diseases, Bratislava, Slovakia.
作者单位: Department of Medical Genetics, Kepler University Hospital, School of Medicine, Johannes Kepler University, Linz, Austria.;Department of Pediatrics, Faculty of Medicine, Comenius University Bratislava and National Institute of Children's Diseases, Bratislava, Slovakia. [1] Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA.;Department of Molecular & Integrative Physiology and. [2] Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA.;Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan, USA. [3] Department of Pediatric Neurology, Faculty of Medicine, Comenius University Bratislava and National Institute of Children's Diseases, Bratislava, Slovakia. [4] Department of Pediatrics, Faculty of Medicine, Comenius University Bratislava and National Institute of Children's Diseases, Bratislava, Slovakia. [5] Immunology Outpatient Clinic, Vienna, Austria.;Sigmund Freud Private University-Medical School, Vienna, Austria. [6] Immunology Outpatient Clinic, Vienna, Austria. [7] Division of Neuropathology, Neuromed Campus, Department of Pathology and Molecular Pathology, Kepler University Hospital, Johannes Kepler University, Linz, Austria. [8] Institute of Medical Biology, Genetics and Clinical Genetics, Faculty of Medicine, and. [9] Faculty of Natural Sciences, Department of Molecular Biology, Comenius University, Bratislava, Slovakia.;Institute for Clinical and Translational Research, Biomedical Research Centre, Slovak Academy of Sciences, Bratislava, Slovakia. [10] Department of Molecular & Integrative Physiology and. [11] University Children's Hospital, Salzburger Landeskliniken Universitätsklinikum (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. [12] Department of Molecular Physiology and Biological Physics, University of Virginia, Charlottesville, Virginia, USA.;Department of Molecular & Integrative Physiology and.;Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan, USA. [13]
DOI 10.1172/JCI170882
PMID 37943617
发布时间 2025-07-19
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The Journal of clinical investigation

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