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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Pathogenic variants in UNC13A underlie a novel neurodevelopmental syndrome, with three subtypes defined by distinct genotypes with varying clinical and functional impacts characterized in cellular and animal models.

Reza Asadollahi
Aisha Ahmad
Noa Lipstein
ResearchOpen Access22 Oct 2025
Nature Genetics

Volume: 57, P: 2691-2704

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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

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