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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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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Elsevier
2023
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| 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 |