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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAA

Variant:p.A719P

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GAA

NM_000152.5:p.A719P

hg38:chr17:80113332 G>C

Associated Papers

Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory.

Saville JT et al.

Metabolites, 2021

34357340 (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."