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Normal allele: GG
A breakdown causing primary carnitine deficiency.
Polymorphism rs28383481 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:
16652335 Pharmacological rescue of carnitine transport in primary carnitine deficiency.
23757202 Free the data: one laboratory's approach to knowledge-based classification of genomic variants and preparation for integration of genomic data into EMR.
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...