van Karnebeek et al., 2019 - Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. American journal of human genetics   105(3):534-548 Full text @ Am. J. Hum. Genet.
Human Disease / Model Data (2 Records)
Human Disease Fish Environment Evidence Code
developmental and epileptic encephalopathy 82 WT + MO1-got2a standard conditions
early infantile epileptic encephalopathy WT + MO1-got2a standard conditions