NeurosciencebioRxivPreprint
Human patient SFPQ homozygous mutation is found deleterious for brain and motor development in a zebrafish model
Patricia M Gordon, Stéphanie Efthymiou, Vincenzo Salpietro…·Corinne Houart
The paper identifies a homozygous SFPQ mutation in a human patient with neurological features and shows its deleterious effects in a zebrafish model.