Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.R288G
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PC

NM_001040716.2:p.R288G

Associated Papers

Functional analysis of a novel mutation in the PCCA gene identified in a late-infantile onset propionic acidemia patient.

Lianou D et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

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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."