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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg) | Uncertain Significance | creatine transporter deficiency | 2023-08-24 | 1.0 | - | SLC6A8 |
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