Varaico: Literature-Extracted Genetic Variants

Gene:PCCA
Variant:p.R77_V78Splc
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PCCA

NM_000282.4:p.R77_V78Splc

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

Clinical characteristics and mutation analysis of propionic acidemia in Thailand.

Vatanavicharn N et al.

World Journal of Pediatrics : Wjp, 2014

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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."