Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 12 | |
| | LOC130068621, NDUFA1 (G32R) | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 12 +3 more | |
| | | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 12 | |
| | LOC130068621, NDUFA1 (G8R) | Single nucleotide variant (missense variant) | Mitochondrial complex 1 deficiency, nuclear type 12 | |
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