Varaico: Literature-Extracted Genetic Variants

Gene:PCCA
Variant:p.R77_V78Splc
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PCCA

NM_000282.4:p.R77_V78Splc

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

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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."