Cell BiologybioRxiv
Pervasive mislocalization of pathogenic coding variants underlying human disorders
J. Lacoste, M. Haghighi, S. Haider…·M. Taipale
The paper develops a high-throughput imaging platform to assess the functional impact of missense variants on protein localization, finding that mislocalization is common in pathogenic variants.
DOI 10.1016/j.cell.2024.09.003