Varaico: Literature-Extracted Genetic Variants

Gene:PCCA
Variant:p.R390_I391insFs
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PCCA

NM_000282.4:p.R390_I391insFs

Associated Papers

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

Yang X et al.

Molecular Genetics and Metabolism, 2004

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

Pérez-Cerdá C et al.

European Journal of Human Genetics : Ejhg, 2000

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

Ugarte M 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."