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Frequency of mutations in comparison to previous studies
| Gene | Our cohort | Literature | Reference |
|---|---|---|---|
| KAL-1 | 3/11 | 6/135 | Nair et al. (35) |
| 7/101 | Oliveira et al. (6) | ||
| 2/26 | Shin et al. (36) | ||
| 1/26 | Vizeneux et al. (18) | ||
| FGFR1 | 1/11 | 6/135 | Nair et al. (35) |
| 9/80 | Trarbach et al. (24) | ||
| 2/26 | Vizeneux et al. (18) | ||
| GNRHR | 1/11 | 9/135 | Nair et al. (35) |
| 5/108 | Beranova et al (37) | ||
| 1/26 | Vizeneux et al. (18) | ||
| CHD7 | 2/11 | 2/26 | Shin et al. (36) |
| Digenic-PROKR2 and IL17RD | 1/11 |
