. . . . . . . "[A homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R) was identified in two sibling Japanese early onset spastic ataxia patients]. 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 . "2017-10-17T13:18:20+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .