Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.Q269_V270Splc
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PAX6

NM_001368894.2:p.Q269_V270Splc

Associated Papers

Clinical and molecular aspects of aniridia.

Kokotas H et al.

Clinical Genetics, 2010

Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.

Grønskov K et al.

Human Genetics, 2001

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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."