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_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
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31700164 (PubMed )
Supplement: 41436_2019_685_MOESM10_ESM.xls › PivotTable
Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations.
Chauhan BK et al.
American Journal of Ophthalmology Case Reports, 2018
Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
Riera M et al.
Molecular Genetics & Genomic Medicine, 2017
Genotype-phenotype correlation of PAX6 gene mutations in aniridia.
Yokoi T et al.
Human Genome Variation, 2016
Using protein design algorithms to understand the molecular basis of disease caused by protein-DNA interactions: the Pax6 example.
Alibés A et al.
Nucleic Acids Research, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
PAX6 mutations: genotype-phenotype correlations.
Tzoulaki I et al.
Bmc Genetics, 2005
Missense mutations in the PAX6 gene in aniridia.
Azuma N et al.
Investigative Ophthalmology & Visual Science, 1998
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