Giant axonal neuropathy (GAN) in an 8‐year‐old girl caused by a homozygous pathogenic splicing variant in GAN gene-论文-万方医学网

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Giant axonal neuropathy (GAN) in an 8‐year‐old girl caused by a homozygous pathogenic splicing variant in GAN gene

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第一作者： Yufan Guo

作者： Yufan Guo ^[1] ; Qunyan Su ^[2] ; Xueying Zhu ^[3] ; Jianda Wang ^[4] ; Yuting Lou ; Pu Miao ; Ye Wang ; Bijun Zhang ; Yuting Jin ; Liuyan Gao ; Xiaoxiao Xu ; Wangyang Chen ; Min Sheng ; Jianhua Feng

作者单位： Department of Pediatrics, The Second Affiliated Hospital, School of Medicine,Zhejiang University ^[1] Taizhou Women and Children's Hospital ^[2] Lanxi People's Hospital, School of Medicine,Zhejiang University ^[3] Kaiumph Medical Diagnostics Co., Ltd. ^[4]

关键词 central nervous systems genotype giant axonal neuropathy peripheral nervous systems phenotype

发布时间 2022-04-29

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Giant axonal neuropathy (GAN) in an 8‐year‐old girl caused by a homozygous pathogenic splicing variant in GAN gene

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Giant axonal neuropathy (GAN) in an 8‐year‐old girl caused by a homozygous pathogenic splicing variant in GAN gene

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