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A novel missense pathogenic variant in NEFH causing rare Charcot-Marie-Tooth neuropathy type 2CC

Junqiang Yan1,2, Liang Qiao3, Huifang Peng4

  • 1Laboratory of Molecular Neurobiology, The First Affiliated Hospital, College of Clinical Medicine of Henan University of Science and Technology, Luoyang, 471003, People's Republic Of China. yanjq@haust.edu.cn.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|August 12, 2020
PubMed

Keywords:
CMT2CC;Charcot-Marie-Tooth;FamilyNEFH;Variant;

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