Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.A402fs
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PCCB

NM_000532.5:p.A402fs

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

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

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.

Pérez B et al.

Molecular Genetics and Metabolism, 2003

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."