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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GAA

Variant:p.D645_C647del0

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GAA

NM_000152.5:p.D645_C647del0

hg38:chr17:80112921 ACGTCTG>A

Associated Papers

Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.

Chawla T et al.

Journal of Neuromuscular Diseases, 2022

34864681 (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."