Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.A195V
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PC

NM_001040716.2:p.A195V

Associated Papers

Exploring Aerobic Energy Metabolism in Breast Cancer: A Mutational Profile of Glycolysis and Oxidative Phosphorylation.

Oliveira RC et al.

International Journal of Molecular Sciences, 2024

Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis.

Doğulu N et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Pronicka E et al.

Journal of Translational Medicine, 2016

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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."