Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.P39insFs
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PAX6

NM_001368894.2:p.P39insFs

Associated Papers

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.

Kit V et al.

Jci Insight, 2021

34101622 (PubMed )
Supplement: jciinsight-6-148406-s192.xlsx › Frameshift_mutation

PAX6, brain structure and function in human adults: advanced MRI in aniridia.

Yogarajah M et al.

Annals of Clinical and Translational Neurology, 2016

Clinical and molecular aspects of aniridia.

Kokotas H et al.

Clinical Genetics, 2010

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

Hingorani M et al.

Investigative Ophthalmology & Visual Science, 2009

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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."