. . . . . . . "[mutation evaluation & clinical features examination in a Korean family with amyotrophic lateral sclerosis; a point mutation in exon 1 of the SOD1 gene, resulting in an amino acid change from phenylalanine 20 to cysteine, was identified]. 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 . "2017-10-17T13:16:21+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .