Varaico: Literature-Extracted Genetic Variants

Gene:PCCA
Variant:p.R399Q
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PCCA

NM_000282.4:p.R399Q

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

A Novel PCCA Mutation in a Patient With Late-Onset Propionic Acidemia Identified by Genetic Diagnosis Panel.

Wang Y et al.

Frontiers in Pediatrics, 2018

Propionyl-CoA carboxylase - A review.

Wongkittichote P et al.

Molecular Genetics and Metabolism, 2017

Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation.

Nagao M et al.

Molecular Genetics and Metabolism, 2013

Methylmalonic and propionic aciduria.

Deodato F et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2006

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia.

Yang X et al.

Molecular Genetics and Metabolism, 2004

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.

Desviat LR et al.

Molecular Genetics and Metabolism, 0

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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."