Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.C50S
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UMOD

NM_003361.4:p.C50S

Associated Papers

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

Uromodulin: from physiology to rare and complex kidney disorders.

Devuyst O et al.

Nature Reviews. Nephrology, 2017

A novel UMOD gene mutation associated with uromodulin-associated kidney disease in a young woman with moderate kidney dysfunction.

Kuma A et al.

Internal Medicine (tokyo, Japan), 2015

Association between genotype and phenotype in uromodulin-associated kidney disease.

Moskowitz JL et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2013

Glomerulocystic kidney: one hundred-year perspective.

Lennerz JK et al.

Archives of Pathology & Laboratory Medicine, 2010

Susceptibility genes in common complex kidney disease.

Divers J et al.

Current Opinion in Nephrology and Hypertension, 2010

Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum.

Williams SE et al.

Human Molecular Genetics, 2009

Immature renal structures associated with a novel UMOD sequence variant.

Benetti E et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2009

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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."