Varaico: Literature-Extracted Genetic Variants

Gene:GABRA5
Variant:p.P453L
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GABRA5

NM_000810.4:p.P453L

Associated Papers

GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.

Absalom NL et al.

Journal of Neurochemistry, 2024

De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.

Butler KM et al.

Brain : a Journal of Neurology, 2018

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P et al.

The Lancet. Neurology, 2018

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."