Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.L66P
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UMOD

NM_003361.4:p.L66P

Associated Papers

Mutations in UMOD Contribute to the Pathogenesis of ADTKD-UMOD by Influencing the Function of Complement Factor H.

Xie Q et al.

Journal of Cellular and Molecular Medicine, 2026

Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) in Chinese Patients.

Li MS et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2025

Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort.

Gong K et al.

Scientific Reports, 2021

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

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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."