Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.I517del1
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GAA

NM_000152.5:p.I517del1

Associated Papers

Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease.

Crescimanno G et al.

Neuromuscular Disorders : Nmd, 2015

Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.

Bergsma AJ et al.

Human Mutation, 2015

Familial adult-onset Pompe disease associated with unusual clinical and histological features.

Maggi L et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013

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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."