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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Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation
Coci, E. G.; Gapsys, V. ; Shur, N.; Shin‐Podskarbi, Y.; de Groot, B. L. ; Miller, K. & Vockley, J. et al. (2019)
Human Mutation, 40(6) pp. 816-827. DOI: https://doi.org/10.1002/humu.23742