Article

High-throughput functional mapping of variants in an arrhythmia gene, <i>KCNE1</i> , reveals novel biology

2023-04-29

Abstract excerpt

<h4>Background</h4> KCNE1 encodes a 129-residue cardiac potassium channel (I Ks ) subunit. KCNE1 variants are associated with long QT syndrome and atrial fibrillation. However, most variants have insufficient evidence of clinical consequences and thus limited clinical utility. <h4>Results</h4> Here, we demonstrate the power of variant effect mapping, which couples saturation mutagenesis with high-throughput se...

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Literature Corpus work: e7ee4b9f-030c-5a12-8554-9f476fbcf544
DOI: 10.1101/2023.04.28.538612

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