Links from Orgtrack
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | |
| | | Single nucleotide variant (nonsense) | Townes-Brocks syndrome 1 | |
Click to view in NCBI Gene