Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Autosomal recessive cutis laxa type 2C +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Autosomal recessive cutis laxa type 2C | |
Click to view in NCBI Gene