Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.P130R
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PAX2

NM_000278.5:p.P130R

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

[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

Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome.

Galvez-Ruiz A et al.

Neuro-ophthalmology (aeolus Press), 2017

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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."