. . . . . . . "[Mutation analysis of the CBS gene in Korean patients with homocystinuria was performed/mutations were identified, including four known mutations (T257M, R336C, T353M, and G347S) and four novel mutations (L154Q, A155V, del234D, and A288T).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:11:16+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .