Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Epilepsy, familial adult myoclonic, 1 | |
| | | Single nucleotide variant (intron variant) | Epilepsy, familial adult myoclonic, 1 | |
| | | Microsatellite | Epilepsy, familial adult myoclonic, 1 | |
| | | Microsatellite | Epilepsy, familial adult myoclonic, 1 | |
| | | Microsatellite | Epilepsy, familial adult myoclonic, 1 | |
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