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Wuming Xie

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

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By Ganzhou Maternal, Wuming Xie, Baoqiong Liao, Mei Shuai
| Wiley Online Library Verified
1 Introduction Disruptions in the molecular mechanisms that govern the structure and function of glutamatergic synapses are thought to be a key factor in the development of certain neurodevelopmental disorders (Bourgeron 2015; Grant 2012; Zoghbi and Bear 2012). Deleterious mutations in synaptic proteins have been associated with the related neurodevelopmental disorders, and numerous animal models exhibit deficits in synapse structure and/or function (Guilmatre et al. 2009; Hamdan et al.
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