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

Abstract Background 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. Methods In this study,...

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Hlavní autoři:	Ayesha Muhammad, Maria E. Calandranis, Bian Li, Tao Yang, Daniel J. Blackwell, M. Lorena Harvey, Jeremy E. Smith, Zerubabell A. Daniel, Ashli E. Chew, John A. Capra, Kenneth A. Matreyek, Douglas M. Fowler, Dan M. Roden, Andrew M. Glazer
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2024-05-01
Edice:	Genome Medicine
Témata:	Multiplexed assay of variant effect Long QT syndrome KCNE1 Ion channel Arrhythmia Saturation mutagenesis
On-line přístup:	https://doi.org/10.1186/s13073-024-01340-5
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