Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.G7delFs
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PAX6

NM_001368894.2:p.G7delFs

Associated Papers

A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus.

Qian T et al.

Bmc Ophthalmology, 2021

34610801 (PubMed )
Supplement: 12886_2021_2120_MOESM2_ESM.xlsx › PAX6_variants
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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."