Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000277.3(PAH):c.1076C>G (p.Ser359Ter) | Pathogenic | phenylketonuria | 2020-06-26 | 1.0 | - | PAH |
Showing 1 to 1 of 1 rows