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Distribution of 79 Patients With ABCA4-Related Retinal Disease Based on Number of Identified Disease-Causing Variants
|
Comprehensive Screening With APEX and NGS |
|||||
|
No Disease-Causing Variant |
1 Disease-Causing Variant |
2 Disease-Causing Variants |
3 Disease-Causing Variants |
||
| Prescreening with APEX | 1 disease causing-variant, n = 66 | 29 | 36 | 1 | |
| No disease-causing variants, n = 13 | 6 | 7 | |||
| Total, n = 79 | 6 | 36 | 36 | 1 | |
