Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ciliary dyskinesia, primary, 41 | |
| | | Single nucleotide variant (missense variant) | Ciliary dyskinesia, primary, 41 | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Deletion (frameshift variant) | GAS2L2-related disorder | |
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