Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Bullous ichthyosiform erythroderma +6 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Keratosis palmoplantaris striata 3 | |
Click to view in NCBI Gene