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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Bibliographic Details
Main Authors: Abdulhafeez M. Khair, Alana E. Salvucci
Format: Article
Language:English
Published: Oman Medical Specialty Board 2021-03-01
Series:Oman Medical Journal
Subjects:
Online Access:https://omjournal.org/articleDetails.aspx?coType=1&aId=2879