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Reply: Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.

作者信息

Van Bergen Nicole J, Christodoulou John

机构信息

Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.

Department of Paediatrics, University of Melbourne, Melbourne, Australia.

出版信息

Brain. 2020 Apr 1;143(4):e30. doi: 10.1093/brain/awaa047.

DOI:10.1093/brain/awaa047
PMID:32125358
Abstract
摘要

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