Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.1(PAH):c.940C>A (p.Pro314Thr) | Pathogenic | phenylketonuria | 2023-12-30 | 1.0 | - | PAH |
Showing 1 to 1 of 1 rows