Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.R272W
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PCCB

NM_000532.5:p.R272W

Associated Papers

Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.

Rivera-Barahona A et al.

Molecular Genetics and Metabolism, 2018

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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."