Article

Multi-parametric analysis of 58 SYNGAP1 variants reveal impacts on GTPase signaling, localization and protein stability

2020-04-22

Abstract excerpt

<h4>ABSTRACT</h4> SYNGAP1 is a Ras and Rap GTPase with important roles in regulating excitatory synaptic plasticity. While many SYNGAP1 missense and nonsense mutations have been associated with intellectual disability, epilepsy, schizophrenia and autism spectrum disorder (ASD), there are many variants of unknown significance (VUS). In this report, we characterize 58 variants in nine assays that examine multiple...

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Literature Corpus work: d594a77e-bcd4-5f5b-85d7-b0ce39c71269
DOI: 10.1101/2020.04.21.053686

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