SCN2A – this is what you need to know | Beyond the Ion Channel
epilepsygenetics.net/the-epilepsiome/scn2a-this-is-what-you-need-to-know/
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A smaller number of splice site and frameshift variants, as well as large exonic or whole gene deletions and duplications, have also been identified in patients with various SCN2A-associated phenotypes.
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