Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

Abstract excerpt

Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo...

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