Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.G84S
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PAX2

NM_000278.5:p.G84S

Associated Papers

Variable Phenotypic Expression of PAX2 Variants in Two Lithuanian Families with Kidney Disease.

Brazdziunaite D et al.

Medicina (kaunas, Lithuania), 2025

Phenotype-Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis.

Kalmár T et al.

International Journal of Molecular Sciences, 2023

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

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

Bower M et al.

Human Mutation, 2012

Renal coloboma syndrome.

Schimmenti LA

European Journal of Human Genetics : Ejhg, 2011

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