High-throughput phenotyping of heteromeric human ether-à-go-go-related gene potassium channel variants can discriminate pathogenic from rare benign variants

KCNH2 encodes the human ether-à-go-go-related gene potassium channel, which passes the rapid delayed rectifier potassium current. Loss-of-function variants in KCNH2 cause long QT syndrome type 2, which is associated with a markedly increased risk of cardiac arrhythmias. The majority of rare KCNH2 va...

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Veröffentlicht in:Heart rhythm 2020-03, Vol.17 (3), p.492-500
Hauptverfasser: Ng, Chai-Ann, Perry, Matthew D., Liang, Whitney, Smith, Nicola J., Foo, Brian, Shrier, Alvin, Lukacs, Gergely L., Hill, Adam P., Vandenberg, Jamie I.
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Sprache:eng
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