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Normal allele: CC
Mutations of the CPT2 gene resulting in fatal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
Polymorphism rs74315298 is related to topics like this:
CPT2 disease A condition affecting the oxidation of long-chain fatty acids, Carnitine palmitoyltransferase II...
A condition affecting the oxidation of long-chain fatty acids, Carnitine palmitoyltransferase II...
Research and publications:
18550408 CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
The activated ligand-regulated transcription factors collectively known as nuclear receptors...
The CYP21A2 gene encodes the human protein, Steroid 21-hydroxylase. This enzyme hydroxylates...
In humans, the SLC6A4 gene encodes a protein referred to as both the sodium-dependent serotonin...