Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.

The increased activity observed for all of these variants is likely to be significant as increased or decreased RAC1 activation has also been detected in neurodevelopmental disorders caused by variants in TRIO 32 and HACE1 , 33 supporting the notion that tight regulation of the level of RAC1 activity is important for proper neurodevelopment and function.

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