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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) | Pathogenic | Rett syndrome | 2022-09-06 | 1.0 | - | MECP2 |
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