Links from MedGen
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +11 more | |
| | | Single nucleotide variant (missense variant) | Familial infantile myasthenia +11 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene