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AGAP1-associated endolysosomal trafficking abnormalities link gene–environment interactions in neurodevelopmental disorders

20 Jul 2023

Abstract excerpt

AGAP1 is an Arf1 GTPase-activating protein that regulates endolysosomal trafficking. Damaging variants have been linked to cerebral palsy and autism. We report three new cases in which individuals had microdeletion variants in AGAP1. The affected individuals had intellectual disability (3/3), autism (3/3), dystonia with axial hypotonia (1/3), abnormalities of brain maturation (1/3), growth impairment (2/3) and...

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PMID: 37470098
DOI: 10.1242/dmm.049838

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