. . . . . . . "[The mutation R403stop was found in an individual with mut(0) methylmalonic aciduria (MMA) which resulted from a single base change of C?T in exon 6 of the methylmalonyl-CoA mutase gene (producing a TGA stop codon).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:16:32+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .