Varaico: Literature-Extracted Genetic Variants

Gene:PCCA
Variant:p.D368H
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PCCA

NM_000282.4:p.D368H

Associated Papers

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.

Wang D et al.

Frontiers in Genetics, 2024

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

Dai M et al.

Orphanet Journal of Rare Diseases, 2020

Propionyl-CoA carboxylase - A review.

Wongkittichote P et al.

Molecular Genetics and Metabolism, 2017

[Gene mutation analysis in patients with propionic acidemia].

Hu YH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008

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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."