Associated Papers
Sorting nexin 27 (SNX27) variants associated with seizures, developmental delay, behavioral disturbance, and subcortical brain abnormalities.
Parente DJ et al.
Clinical Genetics, 2020
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.
Damseh N et al.
Neurogenetics, 2015
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