Varaico: Literature-Extracted Genetic Variants

Gene:GABRB2
Variant:p.V133M
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GABRB2

NM_001371727.1:p.V133M

Associated Papers

Characterization of the GABRB2-Associated Neurodevelopmental Disorders.

El Achkar CM et al.

Annals of Neurology, 2021

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."