Varaico: Literature-Extracted Genetic Variants

Gene:CPT2
Variant:p.S391G
Back to variants list

CPT2

NM_000098.3:p.S391G

Associated Papers

Newborn screening for fatty acid oxidation disorders: epidemiological and genetic findings in Southeastern China.

Zhang S et al.

Bmc Pediatrics, 2025

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

Fontaine M et al.

Molecular Genetics and Metabolism, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."