Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.Y543*
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GAA

NM_000152.5:p.Y543*

Associated Papers

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.

Semplicini C et al.

Journal of Inherited Metabolic Disease, 2018

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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."