Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.l889v) of Nav1.5 Channels in Three Spanish Families
International Journal of Molecular Sciences（2024）
Key words
SCN5A,Nav1.5,mutation,Brugada syndrome,cardiac conduction defect,dilated cardiomyopathy,phenotypic penetrance,phenotypic variability
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