Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.L280delFs
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PCCB

NM_000532.5:p.L280delFs

Associated Papers

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

Therapeutic potential of living donor liver transplantation from heterozygous carrier donors in children with propionic acidemia.

Zeng ZG et al.

Orphanet Journal of Rare Diseases, 2022

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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."