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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAA

Variant:p.V3E

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GAA

NM_000152.5:p.V3E

hg38:chr17:80104594 T>A

Associated Papers

[Pompe's disease--acid alpha-glucosidase deficiency--a review].

Iwamasa T et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1993

8411709 (PubMed )

[Acid alpha-glucosidase deficiency: Pompe's disease].

Iwamasa T

Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 1988

3152090 (PubMed )

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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."