Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.D2397Y
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RYR2

NM_001035.3:p.D2397Y

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

Incidence and Clinical Management of Supraventricular Arrhythmias in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia.

Austin BC et al.

Jacc. Clinical Electrophysiology, 2025

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
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