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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.2(PAH):c.745C>T (p.Leu249Phe) | Pathogenic | phenylketonuria | 2019-04-05 | 1.0 | - | PAH |
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