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Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure. (2024)

First Author: Esson G

Attributed to: Rare Disease Research Platform: The renal ciliopathies national network (RCNN) funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1007/s44162-024-00031-4

PubMed Identifier: 38433745

Publication URI: http://europepmc.org/abstract/MED/38433745

Type: Journal Article/Review

Volume: 3

Parent Publication: Journal of rare diseases (Berlin, Germany)

Issue: 1

ISSN: 2731-085X