High-Throughput Functional Evaluation of <i>KCNQ1</i> Decrypts Variants of Unknown Significance

Abstract excerpt

BACKGROUND: The explosive growth in known human gene variation presents enormous challenges to current approaches for variant classification that have implications for diagnosis and treatment of many genetic diseases. For disorders caused by mutations in cardiac ion channels as in congenital arrhythmia syndromes, in vitro electrophysiological evidence has high value in discriminating pathogenic from benign...

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