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Biallelic MYO5B genotypes (n = 78) observed within 3 phenotype categories.
| Genotype | Total | |||||
|---|---|---|---|---|---|---|
| Biallelic Missense | Biallelic Truncating | Missense-Truncating | ||||
| Phenotype | MYO5B-MVID | count (%) | 9 (31.0) | 15 (51.7) | 5 (17.3) | 29 (100) |
| MYO5B-PFIC | count (%) | 11 (57.9) | 0 (0) | 8 (42.1) | 19 (100) | |
| MYO5B-MIXED | count (%) | 12 (40.0) | 11 (36.7) | 7 (23.3) | 30 (100) | |
| total | 32 | 26 | 20 | 78 | ||
