Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.V867A
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GAA

NM_000152.5:p.V867A

Associated Papers

Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells.

Christensen CL et al.

Molecular Therapy. Nucleic Acids, 2024

38948331 (PubMed )
Supplement: mmc1.pdf
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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."