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SOX2 variant types and presence or absence of anophthalmia and microphthalmia
| Patients in this study | Bilateral eye anomalies | Unilateral eye anomalies | Normal | |
|---|---|---|---|---|
| Total | 37 | 31 | 0 | 0 |
| Deletion/translocation | 8 | 8 | 0 | 0 |
| c.70_89del | 7 | 7 | 0 | 0 |
| Frameshift | 13 | 10 | 3 | 0 |
| Missense | 2 | 1 | 1 | 0 |
| Nonsense | 7 | 4 | 1 | 2 |
