Multi-parametric analysis of 58 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 Z. Haas
The paper analyzes 58 SYNGAP1 variants using multiple assays to assess their impact on GTPase signaling, localization, and protein stability, revealing functional differences and pathogenicity classifications.
The American Journal of Human Genetics · Dec 11, 2020Peer-reviewedGenetics