Varaico: Literature-Extracted Genetic Variants

Gene:PCCA
Variant:p.L308fs
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PCCA

NM_000282.4:p.L308fs

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

Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Haijes HA et al.

Journal of Inherited Metabolic Disease, 2020

31828787 (PubMed )
Supplement: JIMD-43-424-s001.pdf
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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."