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