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    Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype

    Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype by Veronika M. Berghold, Mahmoud Koko, Riccardo Berutti, Riccardo Berutti, Barbara Plecko

    Published 2022
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