Varaico: Literature-Extracted Genetic Variants

Gene:GAA
Variant:p.R702S
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GAA

NM_000152.5:p.R702S

Associated Papers

Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.

Remiche G et al.

Journal of Neurology, 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."