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P.R1193Q activates CACNA1C-Q1916R. 1 / 1

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"A concomitant gain-of-function variant in the sodium channel gene SCN5A (p.R1193Q) was found to rescue the phenotype of the female CACNA1C Q1916R mutation carriers, which led to the incomplete penetrance."

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IndraLab

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P.R1193Q activates CACNA1C-Q1916R. 1 / 1

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