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Anne Kayser

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Open access Oct 2026

The p.Arg52Leu variant in GNB2 causes a gain-of-function due to an increase of IK, ACh in stimulated hiPSC-CMs

Initially discovered and published in 2017, the heterozygous mutation (p.Arg52Leu) in the GNB2 gene is associated with sinus node dysfunction (SND) and atrioventricular block (AVB). Electrophysiological characterization using heterologous expression systems has demonstrated that this R52L GNB2 variant results in a larg...

A. Verkerk, Anne Kayser, Jassin Hamidi et al. · 0 citations

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