Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.M671delFs
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GAA

NM_000152.5:p.M671delFs

Associated Papers

Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.

Pushkov A et al.

Frontiers in Molecular Biosciences, 2025

41695778 (PubMed )
Supplement: Table1.xlsx › Sheet1

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_S3
Select a paper to view details
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