Links from Orgtrack
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Spondyloepimetaphyseal dysplasia, Guo-Campeau type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Guo-Campeau type | |
| | | Deletion (intron variant) | TMEM53-related craniotubular dysplasia | |
| | | Duplication (frameshift variant +2 more) | TMEM53-related craniotubular dysplasia | |
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