Varaico: Literature-Extracted Genetic Variants

Gene:GABRG2
Variant:p.R224*
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GABRG2

NM_198904.4:p.R224*

Associated Papers

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Chałupczyńska B et al.

Genes, 2026

Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.

Rossi A et al.

Neurology, 2025

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

GABRG2 Variants Associated with Febrile Seizures.

Hernandez CC et al.

Biomolecules, 2023

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
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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."