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    Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases

    Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases by Javier A Muntadas, Martin R Hyland, Maria Del Rosario Ortolá Martínez, Jaime N Young, Jessica X Chong, Michael J Bamshad, Ricardo A. Maselli

    Published 2024
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