https://www.ncbi.nlm.nih.gov/clinvar/RCV003582511/
NM_000098.3(CPT2):c.1362AG (p.Glu454=) AND Carnitine palmitoyltransferase II deficiency - ClinVar...
ClinVar archives and aggregates information about relationships among variation and human health.
https://medlineplus.gov/genetics/gene/cpt2/
CPT2 gene: MedlinePlus Genetics
The CPT2 gene provides instructions for making an enzyme called carnitine palmitoyltransferase 2. Learn about this gene and related health conditions.
genemedlineplus