Varaico: Literature-Extracted Genetic Variants

Gene:GABRG2
Variant:p.A322T
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GABRG2

NM_198904.4:p.A322T

Associated Papers

Nationwide Study of Pediatric Drug-Resistant Epilepsy in Estonia: Lower Incidence and Insights into Etiology.

Lilles S et al.

Pediatric Reports, 2026

41563000 (PubMed )
Supplement: pediatrrep-18-00008-s001.zip › pediatrrep-3981509-supplementary.pdf

Phenotypic variation in a family with GABRG2-related epilepsy caused by a novel missense variant.

Akiba T et al.

Seizure, 2025

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

Rossi A et al.

Neurology, 2025

Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.

Hiraide T et al.

Clinical Genetics, 2021

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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."