Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.G407delFs
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PCCB

NM_000532.5:p.G407delFs

Associated Papers

Prevalence of propionic acidemia in China.

Zhang Y et al.

Orphanet Journal of Rare Diseases, 2023

Genetic background and clinical characteristics of infantile hyperammonemia.

Li M et al.

Translational Pediatrics, 2023

Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital.

Liu Y et al.

Orphanet Journal of Rare Diseases, 2022

35331292 (PubMed )
Supplement: 13023_2022_2271_MOESM1_ESM.xls › Detailed_data_of_every_patient

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies.

Dai M et al.

Orphanet Journal of Rare Diseases, 2020

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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."