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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAA

Variant:p.A666A

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GAA

NM_000152.5:p.A666A

hg38:chr17:80112985 C>T

Associated Papers

New GAA mutations in Japanese patients with GSDII (Pompe disease).

Pipo JR et al.

Pediatric Neurology, 2003

14643388 (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."