Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Combined oxidative phosphorylation deficiency 57 | |
| | | Single nucleotide variant (missense variant +1 more) | Combined oxidative phosphorylation deficiency 57 | |
| | | Single nucleotide variant (missense variant +2 more) | Combined oxidative phosphorylation deficiency 57 | |
Click to view in NCBI Gene