Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Recessive dystrophic epidermolysis bullosa +22 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa dystrophica +15 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +21 more | |
Click to view in NCBI Gene