Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.G407fs
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PCCB

NM_000532.5:p.G407fs

Associated Papers

Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy.

Álvarez M et al.

International Journal of Molecular Sciences, 2023

Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene.

López-Márquez A et al.

Stem Cell Research, 2019

Propionic acidemia in the Arab World.

Zayed H

Gene, 2015

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.

Pérez B et al.

Journal of Inherited Metabolic Disease, 2010

Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.

Rodríguez-Pombo P et al.

Biochimica Et Biophysica Acta, 2005

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."