Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.A37insFs
Back to variants list

PAX6

NM_001368894.2:p.A37insFs

Associated Papers

Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World's Population and the Human Genome.

Vasilyeva TA et al.

International Journal of Molecular Sciences, 2022

35743132 (PubMed )
Supplement: ijms-23-06690-s001.zip › Table_S1.pdf

Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

Vasilyeva TA et al.

Clinical Genetics, 2017

Genotype-phenotype correlation of PAX6 gene mutations in aniridia.

Yokoi T et al.

Human Genome Variation, 2016

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."