Associated Papers
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
Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.
Fowler ED et al.
Biomolecules, 2022
Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death.
Zhong X et al.
Bioscience Reports, 2021
Cardiac ryanodine receptor calcium release deficiency syndrome.
Sun B et al.
Science Translational Medicine, 2021
Phenotypic and Genomic Analysis of Cystic Hygroma in Pigs.
Letko A et al.
Genes, 2021
33572573 (PubMed )
Supplement: genes-12-00207-s001.zip › supplementary › SupplementaryTableS5_variants_case3.xlsx › Table_S5
Long-Term Follow-Up of Idiopathic Ventricular Fibrillation in a Pediatric Population: Clinical Characteristics, Management, and Complications.
Frontera A et al.
Journal of the American Heart Association, 2019
Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors.
Song JS et al.
Journal of Human Genetics, 2017
Select a paper to view details