Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.R608_A610insFs
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GAA

NM_000152.5:p.R608_A610insFs

Associated Papers

Infantile-onset Pompe disease with neonatal debut: A case report and literature review.

Martínez M et al.

Medicine, 2017

A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).

Aryani O et al.

Molecular Biology Reports, 2014

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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."