Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.L69_G70insG
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PAX2

NM_000278.5:p.L69_G70insG

Associated Papers

Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD.

Sultana N et al.

Clinical Case Reports, 2026

Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.

Hu X et al.

Molecular Genetics & Genomic Medicine, 2024

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.

Nicolaou N et al.

Kidney International, 2016

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

Thomas R et al.

Pediatric Nephrology (berlin, Germany), 2011

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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."