DOI: 10.1055/s-00023625

Neonatologie Scan

References

Coci EG, Gapsys V, Shur N. 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.

Hum Mutat 2019;
40: 816-827
DOI: 10.1002/humu.23742.

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