Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.E242Splc
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PAX6

NM_001368894.2:p.E242Splc

Associated Papers

Clinical and molecular aspects of aniridia.

Kokotas H et al.

Clinical Genetics, 2010

Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

Robinson DO et al.

American Journal of Medical Genetics. Part A, 2008

Missense mutations in the DNA-binding region and termination codon in PAX6.

Chao LY et al.

Human Mutation, 2003

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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."