Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.S9delFs
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GAA

NM_000152.5:p.S9delFs

Associated Papers

Clinical insights in enzyme replacement therapy for metabolic storage disorders: lessons from Pompe disease.

van der Beek NAME et al.

The Lancet. Neurology, 2025

Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.

Nascimbeni AC et al.

Neurology, 2008

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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."