Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.E4224*
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RYR2

NM_001035.3:p.E4224*

Associated Papers

A unified meta-regression model identifies genes associated with epilepsy.

Aguilar O et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

RYR2 receptor gene mutation associated with catecholaminergic polymorphic ventricular tachycardia in children: a case report & literature review.

Abdullah NM et al.

Translational Pediatrics, 2024

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

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."