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SOX2 gene structure and mutations in anophthalmia/microphthalmia. The 5′- and 3′- untranslated regions are shown as blank boxes, and the coding region is shown as a filled box. The start (ATG) and the stop (TGA) codons are indicated. Mutations detected in this study are indicated. The nuclear targeting sequence is underlined. HMG=high mobility group, G=guanosine, T=thymidine, C=cytidine, A=adenosine, Glu=glutamic acid, Pro=proline, Arg=arginine, X=stop, FS=frameshift.
