Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.G377D
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CPT2

NM_000098.3:p.G377D

Associated Papers

A new AMPK activator, GSK773, corrects fatty acid oxidation and differentiation defect in CPT2-deficient myotubes.

Boufroura FZ et al.

Human Molecular Genetics, 2018

Long-term follow-up of bezafibrate treatment in patients with the myopathic form of carnitine palmitoyltransferase 2 deficiency.

Bonnefont JP et al.

Clinical Pharmacology and Therapeutics, 2010

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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."