Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability
57 个 SYNGAP1 变体的多参数分析揭示了其对 GTPase 信号传导、定位和蛋白质稳定性的影响
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2020.11.011
Fabian Meili, William J Wei, Wun-Chey Sin, Warren M Meyers, Iulia Dascalu, Daniel B Callaghan, Sanja Rogic, Paul Pavlidis, Kurt Haas