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Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

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第一作者: Raman,Kumar
第一单位: Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.
作者单位: Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia. [1] Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.;School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia. [2] Faculty of Biology, Medicine and Health, Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.;Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom. [3] Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom. [4] Department of Neuroscience, Erasmus MC University Medical Center, Rotterdam, Netherlands.;ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, Netherlands. [5] Genetic Medicine, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, United States. [6] North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom. [7] Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, and the 100,000 Genomes Project and the Genomics England Research Consortium, Nottingham, United Kingdom. [8] Division of Pediatric Neurology, Medical University of South Carolina, Charleston, SC, United States. [9] Department of Pediatrics, McMaster University Medical Centre, Hamilton, ON, Canada. [10] Department of Diagnostic Genomics, PathWest, Nedlands, WA, Australia.;Division of Pathology and Laboratory Medicine, Medical School, University of Western Australia, Crawley, WA, Australia. [11] Faculty of Health and Medical Sciences, University of Western Australia Medical School, Perth, WA, Australia. [12] Genetic Services of Western Australia, Undiagnosed Diseases Program, Department of Health, Government of Western Australia, Perth, WA, Australia.;Linear Clinical Research, Perth, WA, Australia. [13] Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, and Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada. [14] Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada. [15] Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada. [16] Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands. [17] Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom. [18] Neuroradiology, Royal North Shore Hospital, Sydney, NSW, Australia. [19] Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia. [20] Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.;Childhood Disability Prevention, South Australian Health and Medical Research Institute, Adelaide, SA, Australia. [21]
DOI 10.3389/fnmol.2020.00012
PMID 32116545
发布时间 2024-03-29
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Frontiers in molecular neuroscience

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