Associated Papers
Catecholaminergic polymorphic ventricular tachycardia (and seizure) caused by a novel homozygous likely pathogenic variant in CASQ2 gene.
Askarinejad A et al.
Gene, 2024
Advances in the Molecular Genetics of Catecholaminergic Polymorphic Ventricular Tachycardia.
Song J et al.
Frontiers in Pharmacology, 2021
CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia.
Li Q et al.
Molecular Genetics & Genomic Medicine, 2019
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
Catecholaminergic polymorphic ventricular tachycardia.
Leenhardt A et al.
Circulation. Arrhythmia and Electrophysiology, 2012
Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.
Roux-Buisson N et al.
Human Mutation, 2011
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