Links from Orgtrack
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication (frameshift variant +1 more) | PPFIA3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | PPFIA3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | PPFIA3-related disorder | |
| | | Deletion | PPFIA3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | PPFIA3-related disorder | |
| | | Single nucleotide variant (splice donor variant) | PPFIA3-related disorder | |
| | LOC130064903, PPFIA3 (E40K) | Single nucleotide variant (missense variant +1 more) | PPFIA3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | PPFIA3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | PPFIA3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | PPFIA3-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | PPFIA3-related disorder | |
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