Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.Q47*
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PAX6

NM_001368894.2:p.Q47*

Associated Papers

Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia.

You B et al.

Molecular Vision, 2020

A novel missense mutation in the paired domain of human PAX9 causes oligodontia.

Zhao J et al.

American Journal of Medical Genetics. Part A, 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."