Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.M442T
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PCCB

NM_000532.5:p.M442T

Associated Papers

Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.

Rodríguez-Pombo P et al.

Biochimica Et Biophysica Acta, 2005

Transcarboxylase 12S crystal structure: hexamer assembly and substrate binding to a multienzyme core.

Hall PR et al.

The Embo Journal, 2003

Propionic acidemia: analysis of mutant propionyl-CoA carboxylase enzymes expressed in Escherichia coli.

Chloupkova M et al.

Human Mutation, 2002

Potential relationship between genotype and clinical outcome in propionic acidaemia patients.

Pérez-Cerdá C et al.

European Journal of Human Genetics : Ejhg, 2000

Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online.

Muro S et al.

Human Mutation, 1999

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia.

Ugarte M et al.

Human Mutation, 1999

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.

Desviat LR et al.

Molecular Genetics and Metabolism, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."