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Background
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GABRB3 is a member of the ligand-gated ionic channel family. This protein is one of at least 13 distinct subunits of a multisubunit chloride channel that serves as the receptor for gamma-aminobutyric acid, the major inhibitory transmitter of the nervous system. Mutations in this gene may be associated with the pathogenesis of Angelman syndrome, Prader-Willi syndrome, and autism.
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Background
References
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- Vieira,A.R.,Am. J. Med. Genet. A 146A (21), 2828-2830 (2008)
- Russek,S.J., Genomics 23 (3), 528-533 (1994)
- Saitoh,S., Lancet 339 (8789), 366-367 (1992)
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