GeneticsbioRxivPreprint
More Severe Loss-of-Function Sodium Channel induced by Compound SCN5A R965C and R1309H Mutants lead to Complex Familial Arrhythmia Syndrome.
Yubi Lin, Jiading Qin, Yuhui Shen…·Xiufang Lin
The paper identifies a compound SCN5A mutation R965C-R1309H in a family with arrhythmia syndrome, showing it causes more severe sodium channel dysfunction than either mutation alone.
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