Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.G76_S77insG
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PAX2

NM_000278.5:p.G76_S77insG

Associated Papers

A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.

Yao W et al.

Molecular Genetics & Genomic Medicine, 2025

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

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

Muntean C et al.

International Journal of Molecular Sciences, 2023

FSGS in Chinese twins with a de novo PAX2 mutation: a case report and review of the literature.

Hu R et al.

Journal of Nephrology, 2021

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

Madariaga L et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2013

Developmental Causes of Focal Segmental Glomerulosclerosis.

Klomp LS et al.

Glomerular Diseases, 0

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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."