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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_130839.5(UBE3A):c.373T>C (p.Leu125=) | Benign | Angelman syndrome | 2022-06-30 | 1.0 | - | UBE3A |
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