Associated Papers
Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.
Harvey ML et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41445606 (PubMed )
Supplement: media-2.xlsx › File_S2
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable2.xls › SupplementaryTable2
Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis.
Brewer KR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
39969993 (PubMed )
Supplement: pnas.2412971122.sd02.xlsx › Sheet1
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.
Glazer AM et al.
Circulation, 2022
[KCNQ1 mutation in patients with lone atrial fibrillation].
Feng MJ et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2013
Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population.
Chu HM et al.
Thescientificworldjournal, 2013
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