Varaico: Literature-Extracted Genetic Variants

Gene:PRKAG2
Variant:p.E518V
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PRKAG2

NM_016203.4:p.E518V

Associated Papers

Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy.

Arad M et al.

The Journal of Clinical Investigation, 2002

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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."