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    Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia

    Identification and functional analysis of a novel TBC1D23 pathogenic variant in a Chinese family with pontocerebellar hypoplasia by Kangyu Liu, Yu Chen, Yunlong Meng, Xinyao Wang, Xingkun Tang, Haining Li, Jianjun Chen, Zilin Zhong

    Published 2025-06-01
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