Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.P173R
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UMOD

NM_003361.4:p.P173R

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

Significance of kidney biopsy in autosomal dominant tubulointerstitial kidney disease-UMOD: is kidney biopsy truly nonspecific?

Onoe T et al.

Bmc Nephrology, 2021

A novel mutation in the uromodulin gene in a Japanese family with a mild phenotype of familial juvenile hyperuricemic nephropathy.

Iguchi A et al.

Cen Case Reports, 2013

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