Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.L23delFs
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PAX2

NM_000278.5:p.L23delFs

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

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

Bower M et al.

Human Mutation, 2012

Renal coloboma syndrome.

Schimmenti LA

European Journal of Human Genetics : Ejhg, 2011

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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."