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.1169A>G (p.Glu390Gly) | Pathogenic | phenylketonuria | 2019-04-05 | 1.0 | - | PAH |
Showing 1 to 1 of 1 rows