Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.C183Y
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UMOD

NM_001278614.2:p.C183Y

Associated Papers

Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.

Popp B et al.

European Journal of Human Genetics : Ejhg, 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
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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."