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MG-115Compound heterozygous SCN4A mutation underlies severe congenital hypotonia and biophysical alteration in the encoded voltage-gated NAV1.4 sodium channel



MG-115Compound heterozygous SCN4A mutation underlies severe congenital hypotonia and biophysical alteration in the encoded voltage-gated NAV1.4 sodium channel



Journal of Medical Genetics 52(Suppl 1): A3.2-A4




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Accession: 064709264

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DOI: 10.1136/jmedgenet-2015-103577.8


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