Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.P32S
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PAX2

NM_000278.5:p.P32S

Associated Papers

Integrated Prenatal Genetic Evaluation of Renal Agenesis: Chromosomal Microarray Analysis, Whole Exome Sequencing, and Outcome Correlations in 203 Fetuses.

Zhang N et al.

Genes, 2026

41751559 (PubMed )
Supplement: genes-17-00176-s001.zip › Supplementary_File_S2.xlsx › Sheet1

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal

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

Genetic and radiological aspects of pediatric renal cystic disease: A case series

Pacheco-Orozco RA et al.

Biomedica : Revista Del Instituto Nacional De Salud, 2024

New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report.

Forero-Delgadillo JM et al.

Clinical Medicine Insights. Pediatrics, 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."