Varaico: Literature-Extracted Genetic Variants

Gene:PAX2
Variant:p.V166Splc
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PAX2

NM_000278.5:p.V166Splc

Associated Papers

Clinical Characteristics and Genetic Variants in Children with PAX2 Mutation-Associated Disorders.

Jin Y et al.

Medicina (kaunas, Lithuania), 2025

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

Bower M et al.

Human Mutation, 2012

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.

Thomas R et al.

Pediatric Nephrology (berlin, Germany), 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."