Ansar et al., 2020
- Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Human molecular genetics
29(7):1132-1143
Full text @ Hum. Mol. Genet.
| Human Disease | Fish | Environment | Evidence Code |
|---|---|---|---|
| intellectual disability |
TU + MO1-psmb1 TU + CRISPR3-psmb1 TU + CRISPR1-psmb1 + CRISPR2-psmb1 |
standard conditions standard conditions standard conditions |
|
| microcephaly | TU + MO2-psmb1 | standard conditions | |
| microphthalmia |