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

Critical for brain development, neurodevelopmental and network disorders, the GABRA1 gene encodes for the α1 subunit, an abundantly and developmentally expressed subunit of heteropentameric gamma-aminobutyric acid A receptors (GABA(A)Rs) mediating primary inhibition in the brain. Mutations of the GA...

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Detalles Bibliográficos
Autor principal: Arslan, Ayla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10559982/
https://www.ncbi.nlm.nih.gov/pubmed/37809401
http://dx.doi.org/10.1016/j.heliyon.2023.e20218