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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000152.4(GAA):c.2238G>C (p.Trp746Cys) | Pathogenic | glycogen storage disease II | 2021-10-27 | 1.0 | - | GAA |
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