Links from Orgtrack
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | |
| | | Single nucleotide variant (splice donor variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (missense variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (missense variant) | Lenz-Majewski hyperostosis syndrome | |
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