Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.I885_V886delFs
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GAA

NM_000152.5:p.I885_V886delFs

Associated Papers

Effects of enzyme replacement therapy on bone density in late onset Pompe disease.

Avanti M et al.

Molecular Genetics and Metabolism, 2023

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

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

Bhatnagar C et al.

Neuromuscular Disorders : Nmd, 2022

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

de Faria DOS et al.

Human Mutation, 2021

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

Reuser AJJ et al.

Human Mutation, 2019

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."