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Article

Non-missense variants ofKCNH2show better outcomes in type 2 long QT syndrome

2 Mar 2023

Abstract excerpt

AIMS: More than one-third of type 2 long QT syndrome (LQT2) patients carry KCNH2 non-missense variants that can result in haploinsufficiency (HI), leading to mechanistic loss-of-function. However, their clinical phenotypes have not been fully investigated. The remaining two-thirds of patients harbour missense variants, and past studies uncovered that most of these variants cause trafficking deficiency, resulting...

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Share to Cardiac Arrhythmias and Treatments
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PMID: 36861347
DOI: 10.1093/europace/euac269

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