Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.R245delFs
Back to variants list

PAX6

NM_001368894.2:p.R245delFs

Associated Papers

PAX6 mutations reviewed.

Prosser J et al.

Human Mutation, 1998

Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.

Kondo-Saitoh A et al.

European Journal of Ophthalmology, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."