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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys) | Likely Pathogenic | Marfan syndrome | 2024-10-31 | 1.0 | - | FBN1 |
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