Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.E50fs
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GAA

NM_000152.5:p.E50fs

Associated Papers

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

Kishnani PS et al.

Molecular Genetics and Metabolism, 2010

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Kroos M et al.

Human Mutation, 2008

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.

McCready ME et al.

Molecular Genetics and Metabolism, 2007

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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."