Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.V2490A
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RYR2

NM_001035.3:p.V2490A

Associated Papers

A novel mutation in ryanodine receptor 2 (RYR2) genes at c.12670G>T associated with focal epilepsy in a 3-year-old child.

Hu J et al.

Frontiers in Pediatrics, 2022

RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia.

Ma MG et al.

Frontiers in Neuroscience, 2021

A novel RyR2 mutation associated with co-morbid catecholaminergic polymorphic ventricular tachycardia (CPVT) and benign epilepsy with centrotemporal spikes (BECTS).

Xing Y et al.

Journal of Electrocardiology, 0

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