Associated Papers
Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach.
Davydenko K et al.
Journal of Cellular and Molecular Medicine, 2025
Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene.
Andhika NS et al.
European Journal of Human Genetics : Ejhg, 2024
38849599 (PubMed )
Supplement: 41431_2024_1638_MOESM2_ESM.xlsx › Suppl-Table-2a_validation
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
Zucco J et al.
Journal of Human Genetics, 2024
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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