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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAX6

Variant:p.L243L

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PAX6

NM_000280.6:p.L243L

hg38:chr11:31794070 G>A

Associated Papers

Implication of non-coding PAX6 mutations in aniridia.

Plaisancié J et al.

Human Genetics, 2018

30291432 (PubMed )

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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."