Varaico: Literature-Extracted Genetic Variants

Gene:PCCA
Variant:p.D368G
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PCCA

NM_000282.4:p.D368G

Associated Papers

Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing.

Bychkov I et al.

International Journal of Molecular Sciences, 2021

Propionyl-CoA carboxylase - A review.

Wongkittichote P et al.

Molecular Genetics and Metabolism, 2017

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

Yang X et al.

Molecular Genetics and Metabolism, 2004

Functional characterization of PCCA mutations causing propionic acidemia.

Clavero S et al.

Biochimica Et Biophysica Acta, 2002

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."