Varaico: Literature-Extracted Genetic Variants

Gene:GABRA5
Variant:p.V204I
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GABRA5

NM_000810.4:p.V204I

Associated Papers

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

α5GABAA receptor deficiency causes autism-like behaviors.

Zurek AA et al.

Annals of Clinical and Translational Neurology, 2016

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

Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures.

Ma S et al.

Neuroscience Letters, 2006

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."