Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (genic upstream transcript variant) | Thoracic kyphoscoliosis +29 more | |
| | | Single nucleotide variant (missense variant +1 more) | Restrictive ventilatory defect +4 more | |
| | | Single nucleotide variant (splice donor variant) | Spinal rigidity +5 more | |
Click to view in NCBI Gene