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SAT-449 PSEUDOURIDYLATION DEFECT DUE TO DKC1 AND NOP10 MUTATIONS CAUSE NEPHROTIC SYNDROME, CATARACT, DEAFNESS AND ENTEROCOLITIS
- Source :
- Kidney International Reports. 5:S188
- Publication Year :
- 2020
- Publisher :
- Elsevier BV, 2020.
Details
- ISSN :
- 24680249
- Volume :
- 5
- Database :
- OpenAIRE
- Journal :
- Kidney International Reports
- Accession number :
- edsair.doi...........6a0ebf876eff0c8506603707c25db16c
- Full Text :
- https://doi.org/10.1016/j.ekir.2020.02.476