. . . . . . . "[An autosomal dominant phenotype for hereditary spastic paraplegia is due to a new missense mutation 838C > T (R280C) at an invariant arginine residue in a region involved in the microtubule-binding activity.]. 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 . "2017-10-17T13:14:07+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .