[A novel variant of CPT II was found in a patient with rhabdomyolysis & acute renal failure: a deletion of cytosine & thymine at codon 408, resulting in a stop signal at 420, & an Arg631Cys mutation/frame shift at 408 has never been described before.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE