Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.Q46*
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CPT2

NM_000098.3:p.Q46*

Associated Papers

Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency.

Messina M et al.

International Journal of Neonatal Screening, 2020

Carnitine transport and fatty acid oxidation.

Longo N et al.

Biochimica Et Biophysica Acta, 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."