Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.C135Y
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UMOD

NM_003361.4:p.C135Y

Associated Papers

Autosomal Dominant Tubulointerstitial Kidney Disease: A Review.

Bleyer AJ et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2025

Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.

Kawamoto R et al.

Journal of Nephrology, 2025

40753325 (PubMed )
Supplement: 40620_2025_2355_MOESM1_ESM.docx

Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.

Mabillard H et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2023

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.

Olinger E et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

35947615 (PubMed )
Supplement: pnas.2114734119.sapp.pdf

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.

Kidd K et al.

Kidney International Reports, 2020

Uromodulin: from physiology to rare and complex kidney disorders.

Devuyst O et al.

Nature Reviews. Nephrology, 2017

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.

Bollée G et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."