Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.N177fs
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GAA

NM_000152.5:p.N177fs

Associated Papers

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_S3

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

Safety and effectiveness of resistance training in patients with late onset Pompe disease - a pilot study.

Bhatnagar C et al.

Neuromuscular Disorders : Nmd, 2022

Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.

Alandy-Dy J et al.

Annals of Translational Medicine, 2019

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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."