Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.G70_R71insG
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PAX2

NM_000278.5:p.G70_R71insG

Associated Papers

Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.

Kim JH et al.

European Journal of Human Genetics : Ejhg, 2025

39994403 (PubMed )
Supplement: 41431_2025_1822_MOESM1_ESM.pdf

PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review.

Muntean C et al.

International Journal of Molecular Sciences, 2023

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Mansilla MA et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021

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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."