Varaico: Literature-Extracted Genetic Variants

Gene:GABRB2
Variant:p.L283I
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GABRB2

NM_001371727.1:p.L283I

Associated Papers

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

Mohammadi NA et al.

Ebiomedicine, 2024

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

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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."