Links from PubMed
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mutilating keratoderma +9 more | GPathogenic/Likely pathogenic |
| | | Indel | not provided | |
| | | Single nucleotide variant (missense variant) | Rare genetic deafness +3 more | |
| | | Indel | Rare genetic deafness +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Nonsyndromic genetic hearing loss | |
Click to view in NCBI Gene