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SaveClinical 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
Zhu, Juan; Yu, Hong-Ping; Zou, Jing; Zhang, Yi-Wu; Han, Xin-Qi; Xu, Zi-Yan; Chen, Li; Chen, Qian; Gao, Mei-Zhu; Xie, Li-Jun; Zhang, Xi-Kui; Luo, Jie-Wei; Li, Yun-Fei
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