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| DNA change | Exon | Predicted protein | Phenotype in current study | Phenotype reported in Gottlieb et al. | |
|---|---|---|---|---|---|
| 1 | IVS1-22 C>T | Intron 1 | - | Two female AD patients | - |
| 2 | c.1674 G>A | 2 | K558K | Two female AD patients | - |
| 3 | c. 1792 A>G | 3 | S598G | One female AD patient and one female normal control | PAIS and normal |
PAIS: Partial Androgen Insensitivity Syndrome
