Varaico: Literature-Extracted Genetic Variants

Gene:GABRG2
Variant:p.T317I
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GABRG2

NM_198904.4:p.T317I

Associated Papers

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive.

Johannesen KM et al.

The Journal of Clinical Investigation, 2026

Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.

Maillard PY et al.

Epilepsia, 2022

35718920 (PubMed )
Supplement: EPI-63-2519-s001.xlsx › Feuil1

Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants.

Yang Y et al.

Frontiers in Molecular Neuroscience, 2022

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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."