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<i>RFC1</i> in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.

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第一作者: Carolin K,Scriba
第一单位: Rare Genetic Diseases and Functional Genomics Group, Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia.;Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA 6009, Australia.
作者单位: Rare Genetic Diseases and Functional Genomics Group, Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia.;Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA 6009, Australia. [1] Genomics Pillar, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.;Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia. [2] Genomics Pillar, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.;Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia.;School of Clinical Medicine, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW 2050, Australia. [3] Genomics Pillar, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.;Centre for Population Genomics, Garvan Institute of Medical Research and Murdoch Children's Research Institute, Sydney, NSW 2010, Australia.;School of Computer Science and Engineering, University of New South Wales, Sydney, NSW 2052, Australia. [4] Department of Neurology, Royal Adelaide Hospital, Adelaide, SA 5000, Australia.;Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5000, Australia. [5] UWA Medical School, University of Western Australia, Perth, WA 6009, Australia.;Neurology and Stroke Unit, Fiona Stanley Hospital, Murdoch, WA 6150, Australia. [6] Centre for Clinical Research, University of Queensland, Herston, QLD 4006, Australia. [7] Department of Neurology, Fiona Stanley Hospital, Perth, WA 6150, Australia. [8] Department of Neurosciences, Griffith University, Sunshine Coast University Hospital, Mount Gravatt, QLD 4111, Australia. [9] Neurogenetic Unit, Royal Perth Hospital, Perth, WA 6000, Australia. [10] Neurology Department, Auckland City Hospital, Auckland, New Zealand. [11] Centre for Brain Research Neurogenetics Research Clinic, University of Auckland, Auckland, New Zealand. [12] Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. [13] Preventive Genetics Group, Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia. [14] Neurogenetics Laboratory, Department of Diagnostic Genomics, PP Block, QEII Medical Centre, Nedlands, WA 6009, Australia. [15] Rare Genetic Diseases and Functional Genomics Group, Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA 6009, Australia. [16]
DOI 10.1093/braincomms/fcad208
PMID 37621409
发布时间 2023-08-26
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2023年5卷4期

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