Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.T182_I183Splc
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GAA

NM_000152.5:p.T182_I183Splc

Associated Papers

Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.

Mousavi SS et al.

Biomed Research International, 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_S2
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