Links from Orgtrack
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Insertion (nonsense) | Cornelia de Lange syndrome 1 | |
| | | Duplication (nonsense) | Cornelia de Lange syndrome 1 | |
| | | Duplication (frameshift variant) | DYRK1A-related intellectual disability syndrome | |
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