Varaico: Literature-Extracted Genetic Variants

Gene:GABRB2
Variant:p.V262F
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GABRB2

NM_001371727.1:p.V262F

Associated Papers

GABA(A) Receptor Subunit (γ2, δ, β1-3) Variants in Genetic Epilepsy: A Comprehensive Summary of 206 Clinical Cases.

Zhu X et al.

Journal of Child Neurology, 2024

Characterization of the GABRB2-Associated Neurodevelopmental Disorders.

El Achkar CM et al.

Annals of Neurology, 2021

Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes.

Li H et al.

Frontiers in Pharmacology, 2021

A de novo GABRB2 variant associated with myoclonic status epilepticus and rhythmic high-amplitude delta with superimposed (poly) spikes (RHADS).

Nishikawa A et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2020

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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."