Assessing Splicing Variants in the PAX6 Gene: A Comprehensive Minigene Approach.

Abstract excerpt

Haploinsufficiency of the PAX6 gene causes aniridia, a congenital eye disorder characterised by the absence or malformation of the iris and foveal hypoplasia. Previous studies indicate that pathogenic splice variants account for up to 15% of all disease-causing PAX6 variants. However, this proportion may be significantly underestimated because the pathogenicity of splice variants can only be accurately...

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• Alternative Splicing
• Aniridia
• Exons
• High-Throughput Nucleotide Sequencing
• Introns