Table 1.
De novo mutation profiles for human NIPBL and Mau2
| Observed | Expected | |
|---|---|---|
| NIPBL | ||
| Synonymous | 58 | 58.4 |
| Missense | 88 | 160.9 |
| Loss of function | 0 | 18.4 |
| Mau2 | ||
| Synonymous | 25 | 26.6 |
| Missense | 13 | 52.7 |
| Loss of function | 0 | 3.8 |
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