Associated Papers
A de novo mutation in RAB11A is associated with neurodevelopmental disorder accompanied by variable multisystem abnormalities.
Zhang H et al.
Frontiers in Genetics, 2025
A Novel Constitutively Active c.98G > C, p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization.
Tsuneura Y et al.
Human Mutation, 2023
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF et al.
American Journal of Human Genetics, 2017
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