Pyruvate Carboxylase Deficiency Type A and Type C: Characterization of Five Novel Pathogenic Variants in PC and Analysis of the Genotype-Phenotype Correlation
Human Mutation（2019）
关键词
biotin carboxyl carrier protein domain,biotin carboxylase domain,carboxyl transferase domain,neurodevelopmental delay,PC tetramerization domain,pyruvate carboxylase,pyruvate carboxylase deficiency
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