Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.V236delFs
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GAA

NM_000152.5:p.V236delFs

Associated Papers

Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.

Cohen JL et al.

Jimd Reports, 2026

41586034 (PubMed )
Supplement: JMD2-67-e70060-s001.xlsx › JIMD_03.04.2025_Supp_Table_1

Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.

Thuriot F et al.

Journal of Clinical Medicine, 2021

Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.

De Groot AS et al.

Frontiers in Immunology, 2021

34220802 (PubMed )
Supplement: DataSheet_1.pdf
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