dataset related to article "SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus"
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We describe a 25 year-old woman, carrying a splicing mutation in the <em>SCN8A</em> gene, whose clinical picture was characterized by action myoclonus and moderate intellectual disability
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Zenodo创建时间：
2021-03-24
