Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.R38_D41delFs
Back to variants list

PAX6

NM_001368894.2:p.R38_D41delFs

Associated Papers

PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.

Souzeau E et al.

Molecular Vision, 2018

Clinical and molecular aspects of aniridia.

Kokotas H et al.

Clinical Genetics, 2010

Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.

Redeker EJ et al.

Molecular Vision, 2008

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."