Varaico: Literature-Extracted Genetic Variants

Gene:MGAM
Variant:p.A616S
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MGAM

NM_001365693.1:p.A616S

Associated Papers

A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.

Parenti G et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2014

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."