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Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis (2020)

First Author: Balogh E

Attributed to: Determining the Role of Canonical Notch Signalling in the Regulation of the Glucocorticoid Receptor in Steroid Resistant Nephrotic Syndrome funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1073/pnas.2002328117

PubMed Identifier: 32554502

Publication URI: http://europepmc.org/abstract/MED/32554502

Type: Journal Article/Review

Parent Publication: Proceedings of the National Academy of Sciences

Issue: 26

ISSN: 0027-8424