Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.C223G
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UMOD

NM_003361.4:p.C223G

Associated Papers

Exome Sequencing in Pacific Islanders With Nephropathies of Unknown Origin.

de Saint Gilles D et al.

Kidney International Reports, 2025

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

UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review.

Yang J et al.

Bmc Pediatrics, 2019

A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study and literature review.

Lin Z et al.

Renal Failure, 2018

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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."