Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.V718delFs
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GAA

NM_000152.5:p.V718delFs

Associated Papers

Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.

Zhao HH et al.

Annals of Translational Medicine, 2021

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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."