Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.V65A
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PAX2

NM_000278.5:p.V65A

Associated Papers

A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.

Yao W et al.

Molecular Genetics & Genomic Medicine, 2025

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

Identification of of a PAX2 mutation from maternal mosaicism causes recurrent renal disorder in siblings.

Liu B et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."