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Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve<i>KCNH2</i>-LQTS Variant Classification and Cardiac Event Risk Stratification

2024-02-05

Abstract excerpt

<h4>Background</h4> Long QT syndrome (LQTS) 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 owing to 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-specif...

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Literature Corpus work
0d0fc1ec-861e-577c-a5f3-78e801f41991
DOI
10.1101/2024.02.01.24301443
Open publication

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Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve<i>KCNH2</i>-LQTS Variant Classification and Cardiac Event Risk StratificationDOI 10.1101/2024.02.01.24301443
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