Links from Orgtrack
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Charcot-Marie-Tooth disease type 4A | |
| | | Deletion | Charcot-Marie-Tooth disease axonal type 2P | |
| | | Copy number gain | Charcot-Marie-Tooth disease type 4H | |
| | | Single nucleotide variant (missense variant) | Giant axonal neuropathy 1 | |
| | | Deletion | Giant axonal neuropathy 1 | |
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