Varaico: Literature-Extracted Genetic Variants

Gene:GABRB2
Variant:p.F245S
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GABRB2

NM_001371727.1:p.F245S

Associated Papers

The genetic and phenotypic spectrum of GABRB1-related disorders.

Millevert C et al.

Brain : a Journal of Neurology, 2025

Epileptic Encephalopathy GABRB Structural Variants Share Common Gating and Trafficking Defects.

Hernandez CC et al.

Biomolecules, 2023

Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.

Yang Y et al.

Developmental Medicine and Child Neurology, 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."