Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.R600insFs
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GAA

NM_000152.5:p.R600insFs

Associated Papers

Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.

Balendran-Braun S et al.

Human Mutation, 2024

40225932 (PubMed )
Supplement: 6248437.f2.xlsx › Supplementary_Table_S2
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