Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.G210R
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UMOD

NM_003361.4:p.G210R

Associated Papers

Uromodulin: Roles in Health and Disease.

Schaeffer C et al.

Annual Review of Physiology, 2021

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 transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.

Bernascone I et al.

Human Molecular Genetics, 2010

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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."