Fig. 4From: Detection of a novel PAX6 variant in a Chinese family with multiple ocular abnormalitiesSequence chromatograms showing the wild-type (a) and mutated (b) PAX6 gene. The red box demonstrates the presence of a heterozygous frameshift deletion variant (c.114_119delinsAATTTCC: p.Pro39llefsTer17) in exon 5 of the PAX6 gene. The red arrows indicate the site of the variant, with the dual peaks corresponding to the presence of the indicated heterozygous insertion variantsBack to article page