Associated Papers
Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach.
Davydenko K et al.
Journal of Cellular and Molecular Medicine, 2025
Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.
Wang L et al.
Orphanet Journal of Rare Diseases, 2024
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
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
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.
McDonnell AF et al.
Molecular Systems Biology, 2024
38849565 (PubMed )
Supplement: 44320_2024_43_MOESM3_ESM.xlsx › Human_Variants
Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations.
Chauhan BK et al.
American Journal of Ophthalmology Case Reports, 2018
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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