Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.R512H
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PCCB

NM_000532.5:p.R512H

Associated Papers

Prevalence of propionic acidemia in China.

Zhang Y et al.

Orphanet Journal of Rare Diseases, 2023

Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Guo Y et al.

Orphanet Journal of Rare Diseases, 2023

37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1

Gene diagnosis and pedigree analysis of two Han ethnicity families with propionic acidemia in Fujian.

Chen Y et al.

Medicine, 2021

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."