Varaico: Literature-Extracted Genetic Variants

Gene:EEF1A2
Variant:p.R166H
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EEF1A2

NM_001958.5:p.R166H

Associated Papers

Epilepsy phenotypes and responses to antiseizure medications in pediatric patients with EEF1A2-related epilepsy.

Yun HJ et al.

Brain & Development, 2025

Broadening the scope of multigene panel analysis for adult epilepsy patients.

Lee S et al.

Epilepsia Open, 2024

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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."