Associated Papers
Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach.
Davydenko K et al.
Journal of Cellular and Molecular Medicine, 2025
The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.
Jiang Y et al.
Investigative Ophthalmology & Visual Science, 2024
39212610 (PubMed )
Supplement: iovs-65-10-46_s006.pdf
Diversity of clinical phenotypes in a cohort of Han Chinese patients with PAX6 variants.
Huang L et al.
Frontiers in Genetics, 2023
Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.
Dubey SK et al.
Molecular Vision, 2015
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