Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.I557S
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GAA

NM_000152.5:p.I557S

Associated Papers

Extensive digital health technology assessment detects subtle motor impairment in mild and asymptomatic Pompe disease.

Pilotto A et al.

Scientific Reports, 2025

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

Reuser AJJ et al.

Human Mutation, 2019

Asymptomatic Pompe disease: Can muscle magnetic resonance imaging facilitate diagnosis?

Pichiecchio A et al.

Muscle & Nerve, 2016

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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."