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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.2(PAH):c.140C>T (p.Ala47Val) | Likely Pathogenic | phenylketonuria | 2020-05-22 | 1.0 | - | PAH |
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