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    A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant

    A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant by Jialong Zhang, Xinyu Chen, Chong Yan, Xinyu Gu, Wenhua Zhu, Xuwei Cao, Lei Zhou, Sushan Luo, Jie Lin, Zunbo Li, Jiahong Lu, Chongbo Zhao, Kai Qiao, Xuefan Yu, Jianying Xi

    Published 2025-05-01
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