Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.K433insFs
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PCCB

NM_000532.5:p.K433insFs

Associated Papers

SARS-CoV-2 infection in a patient with propionic acidemia.

Caciotti A et al.

Orphanet Journal of Rare Diseases, 2020

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

Pérez B et al.

Journal of Inherited Metabolic Disease, 2010

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

Ugarte M et al.

Human Mutation, 1999

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."