Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.L23insFs
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PAX2

NM_000278.5:p.L23insFs

Associated Papers

Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract and PAX2 Loss-of-Function Variants and Implications for Clinical Management.

Greipel L et al.

Kidney International Reports, 2025

41278353 (PubMed )
Supplement: mmc2.xlsx › Tabelle2

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
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