[As this is a third independent case of protein C Tochigi with thromboembolism, the mutation of Arg169 (CGG) to Trp169 (TGG) in the protein C gene may be a hot spot and a common type of genetic lesion in congenital protein C deficiency with thromboembolic complications.]. 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