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

作者信息

Kaur Parneet, Kadavigere Rajagopal, Girisha Katta Mohan, Shukla Anju

机构信息

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

Department of Radiodiagnosis and Imaging, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

出版信息

Brain. 2020 Apr 1;143(4):e29. doi: 10.1093/brain/awaa046.

DOI:10.1093/brain/awaa046
PMID:32125366
Abstract
摘要

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Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.TRAPPC4基因中反复出现的双等位基因剪接变异c.454+3A>G与进行性脑病和肌肉受累有关。
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