Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.I4197V
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RYR2

NM_001035.3:p.I4197V

Associated Papers

Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.

Sanri A et al.

Brain & Development, 2026

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.

Goudal A et al.

Human Mutation, 2022

35819174 (PubMed )
Supplement: HUMU-43-1333-s001.pdf

Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome.

Smith E et al.

Journal of the American Heart Association, 2022

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