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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAX6

Variant:p.E228Splc

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PAX6

NM_000280.6:p.E228Splc

hg38:chr11:31794123 G>C

Associated Papers

Comparison between aniridia with and without PAX6 mutations: clinical and molecular analysis in 14 Korean patients with aniridia.

Lim HT et al.

Ophthalmology, 2012

22361317 (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."