Associated Papers
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38370760 (PubMed )
Supplement: media-2.xlsx › Table_S5
Regional Variation in Cardiovascular Genes Enables a Tractable Genome Editing Strategy.
Krysov VA et al.
Circulation. Genomic and Precision Medicine, 2024
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S4
Pore helices play a dynamic role as integrators of domain motion during Kv11.1 channel inactivation gating.
Perry MD et al.
The Journal of Biological Chemistry, 2013
Molecular coupling in the human ether-a-go-go-related gene-1 (hERG1) K+ channel inactivation pathway.
Ferrer T et al.
The Journal of Biological Chemistry, 2011
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