Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.N524K
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GAA

NM_000152.5:p.N524K

Associated Papers

Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa.

Carter C et al.

Frontiers in Genetics, 2024

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_S4

Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.

Holzwarth J et al.

Neuropediatrics, 2022

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