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 / Model Data (1 Record)
Human Disease Fish Environment Evidence Code
pontocerebellar hypoplasia AB/TU + MO1-toe1
AB/TU + MO2-toe1
standard conditions
standard conditions