. . . . . . . . . . . . "[A G:C to A:T mutation at codon 175 of p53 resulting in an arginine --> histidine substitution was detected, confirming the clinical diagnosis of LFS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2016-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2016-05-13T12:44:31+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .