Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.E228fs
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PAX6

NM_000280.6:p.E228fs

Associated Papers

Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach.

Davydenko K et al.

Journal of Cellular and Molecular Medicine, 2025

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

Filatova AY et al.

European Journal of Human Genetics : Ejhg, 2019

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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."