Varaico: Literature-Extracted Genetic Variants

Gene:GABRA1
Variant:p.P260S
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GABRA1

NM_001127644.2:p.P260S

Associated Papers

Understanding paralogous epilepsy-associated GABAA receptor variants: Clinical implications, mechanisms, and potential pitfalls.

Kan ASH et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

39642202 (PubMed )
Supplement: pnas.2413011121.sapp.pdf

Pathogenic variants of human GABRA1 gene associated with epilepsy: A computational approach.

Arslan A

Heliyon, 2023

37809401 (PubMed )
Supplement: mmc5.pdf

Clinical phenotype and genotype of children with GABAA receptor α1 subunit gene-related epilepsy.

Zhang L et al.

Frontiers in Neurology, 2022

Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.

Hernandez CC et al.

Brain : a Journal of Neurology, 2019

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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."