Article

Prediction of Kv11.1 potassium channel PAS-domain variants trafficking via machine learning

2021-11-04

Abstract excerpt

1 Congenital long QT syndrome (LQTS) is characterized by a prolonged QT-interval on an electrocardiogram (ECG). An abnormal prolongation in the QT-interval increases the risk for fatal arrhythmias despite otherwise normal metrics of cardiac function. Genetic variants in several different cardiac ion channel genes, including KCNH2 , are known to cause LQTS. The population frequency of rare non-synonymous (missense...

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Literature Corpus work: 9bd2a00e-eaa1-5d81-8973-6e7f759accac
DOI: 10.1101/2021.11.03.467212

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