Links from Orgtrack
Items: 2
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Abnormality of the skin +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Neurofibromatosis, type 1 +8 more | |
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