Links from Orgtrack
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Distal arthrogryposis type 5D | |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Congenital glaucoma +4 more | |
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