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

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Bibliographic Details
Title: A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.
Authors: Zhang, Jialong1 (AUTHOR), Chen, Xinyu1 (AUTHOR), Yan, Chong1 (AUTHOR), Gu, Xinyu1 (AUTHOR), Zhu, Wenhua1 (AUTHOR), Cao, Xuwei2 (AUTHOR), Zhou, Lei1 (AUTHOR), Luo, Sushan1 (AUTHOR), Lin, Jie1 (AUTHOR), Li, Zunbo3 (AUTHOR), Lu, Jiahong1 (AUTHOR), Zhao, Chongbo1 (AUTHOR), Qiao, Kai1 (AUTHOR), Yu, Xuefan4 (AUTHOR) yuxuefan@jlu.edu.cn, Xi, Jianying1 (AUTHOR) xijianying@fudan.edu.cn
Source: Orphanet Journal of Rare Diseases. 5/30/2025, Vol. 20 Issue 1, p1-8. 8p.
Database: Academic Search Ultimate
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Description
ISSN:17501172
DOI:10.1186/s13023-025-03823-z