Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.R71G
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PAX2

NM_000278.5:p.R71G

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

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

Yang X et al.

Bmc Medical Genomics, 2021

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Hwang DY et al.

Kidney International, 2014

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