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
39212610 (PubMed )
Supplement: iovs-65-10-46_s005.xlsx › TableS2-4
Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia.
Fernandes-Lima ZS et al.
Clinical Genetics, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_10._Splicing_Mutation_Calculator_Source_Datav2.xlsx › Supplementary_Table_10
Clinical and molecular aspects of aniridia.
Kokotas H et al.
Clinical Genetics, 2010
Eye anomalies and neurological manifestations in patients with PAX6 mutations.
Chien YH et al.
Molecular Vision, 2009
Novel mutations of the PAX6 gene identified in Chinese patients with aniridia.
Wang P et al.
Molecular Vision, 2006
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