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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.2(PAH):c.733G>C (p.Val245Leu) | Pathogenic | phenylketonuria | 2023-04-01 | 1.0 | - | PAH |
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