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Electrophysiological phenotypes in iPSC-CMs from early repolarization syndrome with DPP6 (c.2240T > C/p.L747P) mutation

2024-12-02

Abstract excerpt

<h4>Introduction: </h4> A novel missense mutation in the DPP6 gene (c.2240T > C/p.L747P) has recently been identified and linked to early repolarization syndrome (ERS). This study aims to develop a cellular model to probe variant pathogenicity. <h4>Methods:</h4> This study recruited a typical ERS patient carrying missense variant (c.2240T > C/p.L747P) in DPP6 gene (ERS) and 1 healthy control subject (CON). We gene...

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Literature Corpus work
f2b77d07-9243-5816-ad16-12695827b51c
DOI
10.22541/au.173312405.55196781/v1
Open publication

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Electrophysiological phenotypes in iPSC-CMs from early repolarization syndrome with DPP6 (c.2240T > C/p.L747P) mutationDOI 10.22541/au.173312405.55196781/v1
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