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 | Fish | Environment | Evidence Code |
---|---|---|---|
developmental and epileptic encephalopathy 82 | WT + MO1-got2a | standard conditions | |
early infantile epileptic encephalopathy | WT + MO1-got2a | standard conditions |