Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.C94W
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UMOD

NM_003361.4:p.C94W

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

ADTKD-UMOD in a girl with a de novo mutation: A case report.

Li MS et al.

Frontiers in Medicine, 2022

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

Mitochondrial Dysregulation Secondary to Endoplasmic Reticulum Stress in Autosomal Dominant Tubulointerstitial Kidney Disease - UMOD (ADTKD-UMOD).

Kemter E et al.

Scientific Reports, 2017

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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."