Associated Papers
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_SupplementaryTable1.xlsx › SupplementaryTable1_upd
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS08_het
Variable Penetrance and Expressivity of a Rare Pore Loss-of-Function Mutation (p.L889V) of Nav1.5 Channels in Three Spanish Families.
Gallego-Delgado M et al.
International Journal of Molecular Sciences, 2024
38731905 (PubMed )
Supplement: ijms-25-04686-s001.zip › ijms-2913894-supplementary.pdf
Pulmonary Hypertension Associated Genetic Variants in Sarcoidosis Associated Pulmonary Hypertension.
Groen K et al.
Diagnostics (basel, Switzerland), 2022
A systematic review of genetic mutations in pulmonary arterial hypertension.
Garcia-Rivas G et al.
Bmc Medical Genetics, 2017
28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene
Role of genetic polymorphisms of ion channels in the pathophysiology of coronary microvascular dysfunction and ischemic heart disease.
Fedele F et al.
Basic Research in Cardiology, 2013
Genetic variation in KCNA5: impact on the atrial-specific potassium current IKur in patients with lone atrial fibrillation.
Christophersen IE et al.
European Heart Journal, 2013
Epistatic effects of potassium channel variation on cardiac repolarization and atrial fibrillation risk.
Mann SA et al.
Journal of the American College of Cardiology, 2012
Electrophysiological characterization of three non-synonymous single nucleotide polymorphisms (R87Q, A251T, and P307S) found in hKv1.5.
Plante I et al.
Pflugers Archiv : European Journal of Physiology, 2006
Polymorphism screening in the cardiac K+ channel gene KCNA5.
Simard C et al.
Clinical Pharmacology and Therapeutics, 2005
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