Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.R140G
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PAX2

NM_000278.5:p.R140G

Associated Papers

Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.

Kim JH et al.

European Journal of Human Genetics : Ejhg, 2025

39994403 (PubMed )
Supplement: 41431_2025_1822_MOESM1_ESM.pdf

The Mutational Spectrum of Pre- and Post-Neoadjuvant Chemotherapy Triple-Negative Breast Cancers.

Aguilar-Mahecha A et al.

Genes, 2023

38254917 (PubMed )
Supplement: genes-15-00027-s001.zip › Aguilar-Mahecha_et_al_SupplTables_Finalv2.xlsx › Supp_Table_S10

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

Muntean C et al.

International Journal of Molecular Sciences, 2023

[Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene].

Zhao X et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022

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

Yang X et al.

Bmc Medical Genomics, 2021

New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.

Zhang L et al.

Bmc Nephrology, 2018

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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."