Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.R38K
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PAX2

NM_000278.5:p.R38K

Associated Papers

Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.

Gomez VL et al.

Current Issues in Molecular Biology, 2026

A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features.

Oh SH et al.

Annals of Clinical and Laboratory Science, 2020

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