Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) | Pathogenic | glycogen storage disease II | 2021-09-28 | 1.0 | - | GAA |
Showing 1 to 1 of 1 rows