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.2300del (p.Phe767fs)
Pathogenic
glycogen storage disease II2021-09-28
1.0
-GAA
Showing 1 to 1 of 1 rows