Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GP1BB, SEPT5-GP1BB (R114C) | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard-Soulier syndrome, type B | |
| | | Single nucleotide variant (non-coding transcript variant) | Bernard-Soulier syndrome, type B | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bernard Soulier syndrome +1 more | |
Click to view in NCBI Gene