Varaico: Literature-Extracted Genetic Variants

Gene:PAX8
Variant:p.V53L
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PAX8

NM_003466.4:p.V53L

Associated Papers

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

Grønskov K et al.

European Journal of Human Genetics : Ejhg, 1999

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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."