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
Clinical Characteristics and Genetic Variants in Children with PAX2 Mutation-Associated Disorders.
Jin Y et al.
Medicina (kaunas, Lithuania), 2025
Ocular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome.
Benador-Shen CL et al.
Ophthalmic Genetics, 2022
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Mutations in PAX2 associate with adult-onset FSGS.
Barua M et al.
Journal of the American Society of Nephrology : Jasn, 2014
Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.
Madariaga L et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
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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