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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000152.5(GAA):c.546G>T (p.Thr182=) | Pathogenic | glycogen storage disease II | 2021-12-02 | 1.0 | - | GAA |
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