dataset related to article "SCN8A splicing mutation causing skipping of the exon 15 associated with intellectual disability and cortical myoclonus"
收藏NIAID Data Ecosystem2026-03-12 收录
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资源简介：
We describe a 25 year-old woman, carrying a splicing mutation in the SCN8A gene, whose clinical picture was characterized by action myoclonus and moderate intellectual disability
创建时间：
2021-03-25
