Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.R229insFs
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GAA

NM_000152.5:p.R229insFs

Associated Papers

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Mori M et al.

Molecular Genetics and Metabolism, 2017

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

Kishnani PS et al.

Molecular Genetics and Metabolism, 2010

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.

Kishnani PS et al.

The Journal of Pediatrics, 2006

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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."