Links from MedGen
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DGUOK, LOC129934096 (N46S) | Single nucleotide variant (missense variant +2 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +4 more | |
Click to view in NCBI Gene