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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAX6

Variant:p.A37_P39del3

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PAX6

NM_001368894.2:p.A37_P39del3

hg38:chr11:31802727 ACGGCCGGGC>A

Associated Papers

A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract.

Cai F et al.

Molecular Vision, 2010

20664694 (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."