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Congenital Myasthenic Syndrome

Congenital Myasthenic syndrome (CMS) is a group of partially treatable genetic disorders characterized by dysfunction of neuromuscular junction signaling.With the popularization of high-throughput sequencing and in-depth understanding of the disease in recent years, more than thirty pathogenic genes...

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Bibliografische gegevens
Hoofdauteurs: WANG Wenqing, ZHAO Yuying, YAN Chuanzhu
Formaat: Artigo
Taal:Chinês
Gepubliceerd in: Editorial Office of Journal of Rare Diseases 2022-04-01
Reeks:罕见病研究
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Online toegang:https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2022.02.004
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