Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders
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GABAB receptors, the G protein-coupled receptors for the neurotransmitter GABA, are essential for regulating neuronal excitability in the brain. Monoallelic de novo missense variants in GABBR1 and GABBR2, which encode the receptor subunits, have been associate... ...
