Balogh et al., 2020
- Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Proceedings of the National Academy of Sciences of the United States of America
117(26):15137-15147
Full text @ Proc. Natl. Acad. Sci. USA
| Human Disease | Fish | Environment | Evidence Code |
|---|---|---|---|
| dyskeratosis congenita |
dkc1elu1/elu1 (TU) dkc1elu3/elu3 (TU) |
standard conditions standard conditions |
|