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Article

Molecular dissection of neurodevelopmental disorder-causing mutations in CYFIP2

2020-02-13

Abstract excerpt

Actin remodelling is frequently regulated by antagonistic activities driving protrusion and contraction downstream of Rac and Rho small GTPases, respectively. WAVE regulatory complex (WRC), which primarily operates downstream of Rac, plays pivotal roles in neuronal morphogenesis. Recently, two independent studies described de novo mutations in the CYFIP2 subunit of WRC, which caused intellectual disability (ID) in...

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Literature Corpus work
5c534a4b-1ce4-53ce-bcf3-cc31a44da8a1
DOI
10.1101/2020.02.11.943332
Open publication

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Molecular dissection of neurodevelopmental disorder-causing mutations in CYFIP2DOI 10.1101/2020.02.11.943332
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