Varaico: Literature-Extracted Genetic Variants

Gene:RYR3
Variant:p.R2095H
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RYR3

NM_001036.6:p.R2095H

Associated Papers

Whole exome sequencing revealed ultra-rare genetic variations in juvenile myoclonic epilepsy.

Yacoub AM et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

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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."