Varaico: Literature-Extracted Genetic Variants

Gene:MGAM
Variant:p.V451_D452Splc
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MGAM

NM_001365693.1:p.V451_D452Splc

Associated Papers

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.

Lukacs Z et al.

Journal of Inherited Metabolic Disease, 2010

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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."