Lardelli et al., 2017
- Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Nature Genetics
49(3):457-464
Full text @ Nat. Genet.
Human Disease | Fish | Environment | Evidence Code |
---|---|---|---|
pontocerebellar hypoplasia |
AB/TU + MO1-toe1 AB/TU + MO2-toe1 |
standard conditions standard conditions |
|