Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.E246*
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PAX2

NM_000278.5:p.E246*

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

[Analysis of prenatal phenotype and pathogenetic variant in a fetus with Papillorenal syndrome].

Li J et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020

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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."