Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.N4178Y
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RYR2

NM_001035.3:p.N4178Y

Associated Papers

Beyond the Beat, Next-Generation Sequencing Discovery of Novel RYR2 Gene Variant in Long QT Syndrome.

Kalayinia S et al.

Cardiology Research and Practice, 2025

Clinical characteristics and follow-up of complex arrhythmias associated with RYR2 gene mutations in children.

Wang Y et al.

Frontiers in Genetics, 2024

New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.

Jabbari J et al.

Circulation. Cardiovascular Genetics, 2013

24025405 (PubMed )
Supplement: 000118_supplemental_material.pdf
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