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Article

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance

19 Oct 2022

Abstract excerpt

BACKGROUND: Variants in KCNH2, encoding the human ether a-go-go (hERG) channel that is responsible for the rapid component of the cardiac delayed rectifier K+ current (IKr), are causal to long QT syndrome type 2 (LQTS2). We identified eight index patients with a new variant of unknown significance (VUS), KCNH2:c.2717C > T:p.(Ser906Leu). We aimed to elucidate the biophysiological effect of this variant, to enable...

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PMID: 36269083
DOI: 10.1093/hmg/ddac261

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