Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.C127fs
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GAA

NM_000152.5:p.C127fs

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

Late-onset myopathies: clinical features and diagnosis.

de Visser M

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020

High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa.

de Vries JM et al.

Molecular Genetics and Metabolism, 2010

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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."