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Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations

GABRB3 gene is a recently identified gene located in 15q12 chromosome and encodes for gamma-aminobutyric acid (GABA) receptor subunit beta-3 protein, which is linked to the GABAA receptor. The gene is believed to share a role in inhibitory GABAergic synapses, GABA iron-gated channel function, and po...

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Detalles Bibliográficos
Autores principales:	Khair, Abdulhafeez M., Salvucci, Alana E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	OMJ 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8019580/ https://www.ncbi.nlm.nih.gov/pubmed/33854792 http://dx.doi.org/10.5001/omj.2021.27

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