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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_130838.1(UBE3A):c.2T>C (p.Met1Thr) | Pathogenic | Angelman syndrome | 2021-05-17 | 1.0 | - | UBE3A |
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