. . . . . . . . . . . . "[Frameshift, nonsense mutations, and splice mutations in SPG11/are major cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum associated with severe motor and cognitive impairment.]. 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 . "2014-10-02T12:33:14+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .