Links from Orgtrack
Items: 3
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Single nucleotide variant (missense variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Microsatellite (inframe_deletion) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
| | | Deletion (frameshift variant +1 more) | Pterin-4 alpha-carbinolamine dehydratase 1 deficiency | |
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