Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.R281L
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GAA

NM_000152.5:p.R281L

Associated Papers

Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy.

Chen HA et al.

Frontiers in Immunology, 2024

Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme.

Yang CF et al.

Journal of Medical Genetics, 2023

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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."