Multiplexed Assays of Variant Effect and Automated Patch Clamping Improve KCNH2 -LQTS Variant Classification and Cardiac Event Risk Stratification

Abstract excerpt

BACKGROUND: Long QT syndrome is a lethal arrhythmia syndrome, frequently caused by rare loss-of-function variants in the potassium channel encoded by KCNH2 . Variant classification is difficult, often because of lack of functional data. Moreover, variant-based risk stratification is also complicated by heterogenous clinical data and incomplete penetrance. Here we sought to test whether variant-specific...

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