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    Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7

    Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7 by Juan Zhu, Hong-Ping Yu, Jing Zou, Yi-Wu Zhang, Xin-Qi Han, Zi-Yan Xu, Li Chen, Qian Chen, Mei-Zhu Gao, Li-Jun Xie, Xi-Kui Zhang, Jie-Wei Luo, Yun-Fei Li, Yun-Fei Li, Li Zhang

    Published 2025-03-01
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