IndraLab

Statements


SCN4A activates NormoKPP. 2 / 2
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"Mutations of M1592V, V781I, R675G, R675W, R675H, R675Q, and T704M in SCN4A have been reported to cause NormoKPP."

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"Familial NormoKPP caused by the SCN4A p.M1592V mutation is rare, and its clinical features vary."