Associated Papers
Functional identification of hot-spot mutations in cardiac calcium channel genes associated with the J wave syndromes.
Zeng B et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023
L-Type Calcium Channel: Predicting Pathogenic/Likely Pathogenic Status for Variants of Uncertain Clinical Significance.
Tarnovskaya SI et al.
Membranes, 2021
34436362 (PubMed )
Supplement: membranes-11-00599-s001.zip › membranes-1307172-supplementary.xlsx › Table_S1
Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.
Campuzano O et al.
Journal of Clinical Medicine, 2019
Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy.
Gardner RJM et al.
Molecular Genetics & Genomic Medicine, 2019
L-type calcium channel mutations in Japanese patients with inherited arrhythmias.
Fukuyama M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2013
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