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Gain-of-function mutation S422L in the KCNJ8-encoded cardiac KATP channel Kir6.1 as a pathogenic substrate for J-wave syndromes

Cardiac MuscleChannelopathiesCardiomyopathySignal TransductionMolecular PhysiologyHyperpolarization (Biology)Natural SciencesGeneticsJ-wave SyndromesMolecular BiologyIon ChannelsPathogenic SubstrateMolecular GeneticsGene ExpressionMedicineCell SignalingGain-of-function Mutation S422l