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Balogh E, Chandler JC, Varga M, Tahoun M, et al. Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proc Natl Acad Sci U S A 2020 Jun 17. pii: 2002328117.
PMID: 32554502

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