Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.G255S
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PCCB

NM_000532.5:p.G255S

Associated Papers

Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology.

Stanescu S et al.

Amino Acids, 2022

Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance.

Stanescu S et al.

Orphanet Journal of Rare Diseases, 2021

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

Bychkov I et al.

International Journal of Molecular Sciences, 2021

Long-term follow-up with filter paper samples in patients with propionic acidemia.

Stanescu S et al.

Jimd Reports, 2021

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia.

Gallego-Villar L et al.

Journal of Inherited Metabolic Disease, 2013

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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."