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Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders

29 Jan 2025

Abstract excerpt

BACKGROUND: SYNGAP1 encodes a Ras/Rap GTPase-activating protein that is predominantly expressed in the brain with the functional roles in regulating synaptic plasticity, spine morphogenesis, and cognition function. Pathogenic variants in SYNGAP1 have been associated with a spectrum of neurodevelopmental disorders characterized by developmental delays, intellectual disabilities, epilepsy, hypotonia, and the...

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PMID: 39878419
DOI: 10.1002/mgg3.70066

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