Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability
Fabian Meili, William Wei, Wun‐Chey Sin, Warren M. Meyers, Iulia Dascalu, Daniel B. Callaghan, Sanja Rogić, Paul Pavlidis, Kurt Haas
Topics & Concepts
Missense mutationPhenotypeBiologySubcellular localizationGeneticsGTPaseCell biologyGeneCellular transport and secretionGenomics and Rare DiseasesCell Image Analysis Techniques