Varaico: Literature-Extracted Genetic Variants

Gene:GABRA5
Variant:p.W280R
Back to variants list

GABRA5

NM_000810.4:p.W280R

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

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."