Varaico: Literature-Extracted Genetic Variants

Gene:GABRE
Variant:p.R452G
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GABRE

NM_004961.4:p.R452G

Associated Papers

Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.

Markus F et al.

Molecular Genetics & Genomic Medicine, 2020

Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

Hernandez CC et al.

Plos One, 2016

Correction: Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

Hernandez CC et al.

Plos One, 0

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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."