Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.C52Y
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PAX2

NM_000278.5:p.C52Y

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

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

Muntean C et al.

International Journal of Molecular Sciences, 2023

PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database.

Negrisolo S et al.

International Journal of Molecular Sciences, 2023

Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.

Yang X et al.

Bmc Medical Genomics, 2021

Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation.

Iatropoulos P et al.

Pediatric Nephrology (berlin, Germany), 2012

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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."