Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.C94R
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UMOD

NM_003361.4:p.C94R

Associated Papers

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

ADTKD-UMOD in a girl with a de novo mutation: A case report.

Li MS et al.

Frontiers in Medicine, 2022

Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.

Cormican S et al.

Renal Failure, 2019

Monogenic causes of chronic kidney disease in adults.

Connaughton DM et al.

Kidney International, 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."