Varaico: Literature-Extracted Genetic Variants

Gene:PCCA
Variant:p.P423L
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PCCA

NM_000282.4:p.P423L

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

Propionyl-CoA carboxylase - A review.

Wongkittichote P et al.

Molecular Genetics and Metabolism, 2017

Mutation analysis in 54 propionic acidemia patients.

Kraus JP et al.

Journal of Inherited Metabolic Disease, 2012

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.

Pérez B et al.

Journal of Inherited Metabolic Disease, 2010

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

Yang X et al.

Molecular Genetics and Metabolism, 2004

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."