Links from Orgtrack
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta type III | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type III | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type III | |
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