Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.S924P
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GAA

NM_000152.5:p.S924P

Associated Papers

Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.

De Groot AS et al.

Frontiers in Immunology, 2021

34220802 (PubMed )
Supplement: DataSheet_1.pdf

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Reuser AJJ et al.

Human Mutation, 2019

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Kroos M et al.

Human Mutation, 2008

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.

Kishnani PS et al.

The Journal of Pediatrics, 2006

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