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 / Model Data (1 Record)
Human Disease Fish Environment Evidence Code
dyskeratosis congenita dkc1elu1/elu1(TU)
dkc1elu3/elu3(TU)
standard conditions
standard conditions
TAS
TAS