Article

Clinical interpretation of<i>KCNH2</i>variants using a robust PS3/BS3 functional patch clamp assay

2023-10-09

Abstract excerpt

<h4>Summary</h4> Long QT syndrome (LQTS), caused by the dysfunction of cardiac ion channels, increases the risk of sudden death in otherwise healthy young people. For many variants in LQTS genes there is insufficient evidence to make a definitive genetic diagnosis. We have established a robust functional patch clamp assay to facilitate classification of missense variants in KCNH2 , one of the key LQTS genes. A cur...

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Literature Corpus work: fa52088e-7496-5b03-9bf4-f2c9860e40a8
DOI: 10.1101/2023.10.08.23296707

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