Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.C161R
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UMOD

NM_003361.4:p.C161R

Associated Papers

Exome Sequencing in Pacific Islanders With Nephropathies of Unknown Origin.

de Saint Gilles D et al.

Kidney International Reports, 2025

Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families.

Kudo E et al.

Kidney International, 2004

A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.

Dahan K et al.

Journal of the American Society of Nephrology : Jasn, 2003

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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."