Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data-论文-万方医学网

Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data

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作者： Rafehi, Haloom ^[1] ; Szmulewicz, David J. ^[2] ; Pope, Kate ^[3] ; Wallis, Mathew ^[4] ; Christodoulou, John ^[5] ; White, Susan M. ^[6] ; Delatycki, Martin B. ; Lockhart, Paul J. ; Bahlo, Melanie

作者单位： Walter & Eliza Hall Inst Med Res, Melbourne, Vic, Australia ^[1] Alfred Hlth, Neurosci Dept, Cerebellar Ataxia Clin, Melbourne, Vic, Australia ^[2] Murdoch Childrens Res Inst, Bruce Lefroy Ctr Genet Hlth Res, Melbourne, Vic, Australia ^[3] Tasmanian Hlth Serv, Tasmanian Clin Genet Serv, Hobart, Tas, Australia ^[4] Murdoch Childrens Res Inst, Brain & Mitochondrial Res Grp, Parkville, Vic, Australia ^[5] Univ Melbourne, Dept Pediat, Parkville, Vic, Australia ^[6]

关键词 ataxia diagnosis exSTRa repeat expansions short tandem repeats

发布时间 2022-09-11

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