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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_001083962.1(TCF4):c.1727G>A (p.Arg576Gln) | Pathogenic | Pitt-Hopkins syndrome | 2021-05-17 | 1.0 | - | TCF4 |
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