Associated Papers
Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach.
Davydenko K et al.
Journal of Cellular and Molecular Medicine, 2025
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
Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.
Hingorani M et al.
Investigative Ophthalmology & Visual Science, 2009
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