Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.L712_F713delFs
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GAA

NM_000152.5:p.L712_F713delFs

Associated Papers

Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.

Ditters IAM et al.

Biomolecules, 2023

37759814 (PubMed )
Supplement: biomolecules-13-01414-s001.zip › Supplementary_Table_S1.pdf

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

Reuser AJJ et al.

Human Mutation, 2019

31342611 (PubMed )
Supplement: HUMU-40-2146-s001.pdf

Enzyme replacement therapy and antibodies in late-onset Pompe disease.

Schneider I et al.

Molecular Genetics and Metabolism Reports, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."