Varaico: Literature-Extracted Genetic Variants

Gene:PCCA
Variant:p.A106E
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PCCA

NM_000282.4:p.A106E

Associated Papers

Propionic acidemia and methylmalonic aciduria: A portrait of the first 3 years-Admissions and complications.

Chapman KA et al.

Molecular Genetics and Metabolism, 2025

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."