Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.L23fs
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PAX2

NM_000278.5:p.L23fs

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

The Role of PAX2 in Neurodevelopment and Disease.

Lv N et al.

Neuropsychiatric Disease and Treatment, 2021

PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports.

Chang YM et al.

Frontiers in Pediatrics, 2021

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