Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.V273L
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UMOD

NM_003361.4:p.V273L

Associated Papers

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

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

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."