Functional and structural deficiencies of Gemin5 variants associated with neurological disease
Rosario Francisco‐Velilla, Azman Embarc Buh, Francisco del Caño‐Ochoa…·Encarnación Martı́nez-Salas
The paper identifies functional and structural defects in Gemin5 variants linked to neurodevelopmental disorders, showing impaired dimerization and protein instability.