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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_002755.3(MAP2K1):c.388T>C (p.Tyr130His) | Pathogenic | cardiofaciocutaneous syndrome | 2020-07-01 | 1.0 | - | MAP2K1 |
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