Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.Y256insFs
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GAA

NM_000152.5:p.Y256insFs

Associated Papers

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.

Kroos M et al.

Human Mutation, 2008

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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."