Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.R140Q
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PAX2

NM_000278.5:p.R140Q

Associated Papers

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

Kim JH et al.

European Journal of Human Genetics : Ejhg, 2025

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

Yang X et al.

Bmc Medical Genomics, 2021

Clinical and genetic variability of PAX2-related disorder in the Japanese population.

Rossanti R et al.

Journal of Human Genetics, 2020

A new mutation in the PAX2 gene in a Papillorenal Syndrome patient.

Rachwani Anil R et al.

American Journal of Ophthalmology Case Reports, 2019

Mutations in PAX2 associate with adult-onset FSGS.

Barua M et al.

Journal of the American Society of Nephrology : Jasn, 2014

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

Bower M et al.

Human Mutation, 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."