Associated Papers
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
Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations.
Roberti A et al.
Nature Communications, 2016
27600764 (PubMed )
Supplement: ncomms12602-s2.xlsx › Supplementary_Data_2
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.
Marin-Valencia I et al.
Molecular Genetics and Metabolism, 2010
The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.
Wang D et al.
Molecular Genetics and Metabolism, 0
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