Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.Y234*
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PAX6

NM_000280.6:p.Y234*

Associated Papers

The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.

Jiang Y et al.

Investigative Ophthalmology & Visual Science, 2024

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.

Moon D et al.

Genes, 2021

Nonsense suppression induced readthrough of a novel PAX6 mutation in patient-derived cells of congenital aniridia.

Liu X et al.

Molecular Genetics & Genomic Medicine, 2020

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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."