Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation
2019 | journal article
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Coci, Emanuele G., et al. "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, vol. 40, no. 6, 2019, pp. 816-827, doi: 10.1002/humu.23742.
