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Diagnostic journey and genetic analysis of a novel homozygous CYP2U1 mutation causing autosomal recessive spastic paraplegia type 56 (SPG56) in a consanguineous family by Hong-ping Yu, Jing Zou, Xiang Chen, Ying Chen, Dan-dan Ruan, Qian Chen, Jian-hui Zhang, Qiong Cheng, Xing-lin Ruan, Wei Wen, Li Chen, Jie-wei Luo, Yun-fei Li, Xiao-lin Jiang
Published 2025-05-01Get full text
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Genetic analysis of a novel TSC1 splice mutation causing tuberous sclerosis without neurological phenotypes by Xiu-juan Yao, Ying Lin, Jing Zou, Zun-lin Cai, Zi-Yan Xu, Xiao-qin Li, Qian Chen, Hong-ping Yu, Jian-hui Zhang, Dan-dan Ruan, Mei-zhu Gao, Li Zhang, Jie-wei Luo, Bao-song Xie
Published 2025-07-01Get full text
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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 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 2025-03-01Get full text
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