Links from Orgtrack
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Indel | Rett syndrome | |
| | FKBP14, FKBP14-AS1 (E122fs) | Duplication (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
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