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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.3(PAH):c.938C>T (p.Ala313Val) | Pathogenic | phenylketonuria | 2023-07-23 | 1.0 | - | PAH |
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