Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 13 | |
| | | Single nucleotide variant (missense variant) | Diamond-Blackfan anemia 13 | |
Click to view in NCBI Gene