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c.815_824dup10 pathogenic variant status in the study population.
| Mutation status | Families | Sporadic cases | Healthy controls | |||||
|---|---|---|---|---|---|---|---|---|
| Nb cases | Nb cases | Allelic frequency | Healthy relatives Nb cases | Nb cases | Allelic frequency | Nb cases | Allelic frequency | |
| c.815_824dup10+ | 6 | 9 | 27.7% | 10 | 8 | 5% | 1 | 0.55% |
| c.815_824dup10− | 9 | 3 | 13 | 72 | 89 | |||
| Total | 15 | 12 | 23 | 80 | 90 | |||
