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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Bibliografiske detaljer

Principais autores:	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
Format:	Artigo
Sprog:	Inglês
Udgivet:	BMC 2024-05-01
Serier:	Genome Medicine
Fag:	Multiplexed assay of variant effect Long QT syndrome KCNE1 Ion channel Arrhythmia Saturation mutagenesis
Online adgang:	https://doi.org/10.1186/s13073-024-01340-5
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