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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAX6

Variant:p.Q47_T48Splc

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PAX6

NM_001368894.2:p.Q47_T48Splc

hg38:chr11:31802700 T>A

Associated Papers

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

Davydenko K et al.

Journal of Cellular and Molecular Medicine, 2025

40133207 (PubMed )

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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."