bibliographic resource 4949109 [br/4949109]
https://w3id.org/oc/corpus/br/4949109
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- Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficiency
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