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Advanced filters: Author: Sruthi Dontu Clear advanced filters

  • SPTBN1 mutations cause a neurodevelopmental syndrome characterized by intellectual disability, language and motor delays, autism, seizures and other features. The variants disrupt βII-spectrin function and disturb cytoskeletal organization and dynamics.

    • Margot A. Cousin
    • Blake A. Creighton
    • Damaris N. Lorenzo
    Research
    Nature Genetics
    Volume: 53, P: 1006-1021