NeurosciencebioRxivPreprint
Abnormal expression of splicing regulators RBFOX and NOVA is associated with aberrant splicing patterns at the Neurexin-3 gene in a monogenic autism spectrum disorder
Pedro K K Forti, Lilian L Depieri, Lucas A. Giorgiani…·Fábio Papes
The paper investigates splicing regulator dysregulation in Pitt-Hopkins Syndrome neurons and identifies aberrant splicing of the Neurexin-3 gene linked to impaired synapse organization and reduced electrical activity.
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