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.1114A>T (p.Thr372Ser) | Likely Pathogenic | phenylketonuria | 2021-11-21 | 1.0 | - | PAH |
Showing 1 to 1 of 1 rows