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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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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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  Data: A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.
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  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 5/30/2025, Vol. 20 Issue 1, p1-8. 8p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=185594442
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        Value: 10.1186/s13023-025-03823-z
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        Text: English
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      – TitleFull: A cohort of GFPT1 related congenital myasthenic syndrome in China: high frequency of c.331 c > t variant.
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              Text: 5/30/2025
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