Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.V212_N214del0
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PAX2

NM_000278.5:p.V212_N214del0

Associated Papers

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

Bower M et al.

Human Mutation, 2012

A clinico-genetic study of renal coloboma syndrome in children.

Cheong HI et al.

Pediatric Nephrology (berlin, Germany), 2007

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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."