Links from PubMed
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Pyruvate dehydrogenase E3 deficiency | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene