Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.Q47_T48Splc
Back to variants list

PAX6

NM_001368894.2:p.Q47_T48Splc

Associated Papers

Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay.

Filatova AY et al.

European Journal of Human Genetics : Ejhg, 2019

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

Vasilyeva TA et al.

Clinical Genetics, 2017

Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.

Dubey SK et al.

Molecular Vision, 2015

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."