Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.D264insFs
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PCCB

NM_000532.5:p.D264insFs

Associated Papers

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.

Pérez-Cerdá C et al.

Biochimica Et Biophysica Acta, 2003

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

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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."