Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.E539K
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GAA

NM_000152.5:p.E539K

Associated Papers

Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.

Martinez-Montoya V et al.

Molecular Genetics & Genomic Medicine, 2024

Infantile-onset Pompe disease in seven Mexican children.

Sánchez-Sánchez LM et al.

Gaceta Medica De Mexico, 2022

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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."