Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.G60A
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UMOD

NM_003361.4:p.G60A

Associated Papers

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.

Tapper EE et al.

Kidney Medicine, 2026

41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel

A multidisciplinary nephrogenetic referral clinic for children and adults-diagnostic achievements and insights.

Pode-Shakked B et al.

Pediatric Nephrology (berlin, Germany), 2022

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.

Hureaux M 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."