Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.C153G
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UMOD

NM_001278614.2:p.C153G

Associated Papers

Uromodulin: from physiology to rare and complex kidney disorders.

Devuyst O et al.

Nature Reviews. Nephrology, 2017

A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations - A tool for the diagnosis of uromodulin-associated kidney disease.

Satanovskij R et al.

Clinical Biochemistry, 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."