Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.E174G
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GAA

NM_000152.5:p.E174G

Associated Papers

High-risk screening for late-onset Pompe disease in China: An expanded multicenter study.

Jiao K et al.

Journal of Inherited Metabolic Disease, 2025

Diagnostic delay in late-onset Pompe disease among Chinese patients: A retrospective study.

Yue D et al.

Jimd Reports, 2024

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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."