Associated Papers
RYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data.
Chang A et al.
Circulation. Arrhythmia and Electrophysiology, 2025
40875405 (PubMed )
Supplement: hae-18-e013757-s003.xlsx › patients_per_variant
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Outcomes of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia Treated With β-Blockers.
Mazzanti A et al.
Jama Cardiology, 2022
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R et al.
Npj Genomic Medicine, 2022
35288587 (PubMed )
Supplement: 41525_2022_288_MOESM2_ESM.xlsx › SpTable_1_CodingSnvIndels_CMP
Molecular Characterization of Astrocytoma Progression Towards Secondary Glioblastomas Utilizing Patient-Matched Tumor Pairs.
Seifert M et al.
Cancers, 2020
32604718 (PubMed )
Supplement: cancers-12-01696-s001.zip › Supporting_Tables_and_Figures › Table_S8_ExomeSeq_Predictions.xlsx › MuTect_SNV_Predictions
Bradycardia Is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations.
Miyata K et al.
Internal Medicine (tokyo, Japan), 2018
29434162 (PubMed )
Supplement: 1349-7235-57-1813-s001.pdf
Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations.
Broendberg AK et al.
Heart (british Cardiac Society), 2017
Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.
Kawamura M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2013
High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening.
Haugaa KH et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2010
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