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Comment
. 2023 Feb;103(2):248-250.
doi: 10.1016/j.kint.2022.11.018.

Uromodulin and CKD: insight into variant pathogenicity

Nora Franceschini  1 , Jonathan S Berg  2
Affiliations
Comment

Uromodulin and CKD: insight into variant pathogenicity

Nora Franceschini et al. Kidney Int. 2023 Feb.
No abstract available

Keywords: chronic kidney disease; uromodulin; variant pathogenicity.

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  • An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
    Olinger E, Schaeffer C, Kidd K, Elhassan EAE, Cheng Y, Dufour I, Schiano G, Mabillard H, Pasqualetto E, Hofmann P, Fuster DG, Kistler AD, Wilson IJ, Kmoch S, Raymond L, Robert T; Genomics England Research Consortium; Eckardt KU, Bleyer AJ Sr, Köttgen A, Conlon PJ, Wiesener M, Sayer JA, Rampoldi L, Devuyst O. Olinger E, et al. Proc Natl Acad Sci U S A. 2022 Aug 16;119(33):e2114734119. doi: 10.1073/pnas.2114734119. Epub 2022 Aug 10. Proc Natl Acad Sci U S A. 2022. PMID: 35947615 Free PMC article.

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