Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.C77R
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UMOD

NM_003361.4:p.C77R

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

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

32954071 (PubMed )
Supplement: mmc1.pdf

Uromodulin: from physiology to rare and complex kidney disorders.

Devuyst O et al.

Nature Reviews. Nephrology, 2017

Familial juvenile hyperuricemic nephropathy as rare cause of dialysis-dependent chronic kidney disease-a series of cases in two families.

Kaminska-Pajak KA et al.

Renal Failure, 2016

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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."