Article

Novel de novo intronic variant of SYNGAP1 associated with the neurodevelopmental disorders

2024-09-24

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>: 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 disabilit...

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Literature Corpus work: b10fbf4f-389c-522f-ad8a-5d1cf5606a31
DOI: 10.21203/rs.3.rs-5133555/v1

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