Associated Papers
In silico Analysis of Two Novel Variants in the Pyruvate Carboxylase (PC) Gene Associated with the Severe Form of PC Deficiency.
Maryami F et al.
Iranian Biomedical Journal, 2023
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.
Coci EG et al.
Human Mutation, 2019
Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.
Monnot S et al.
Human Mutation, 2009
The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.
Wang D et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details