. . . . . . . "[The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 ?-hydroxylase (p.R417C) - previously reported in a family with hereditary spastic paraplegia type 5.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2017-02-19"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:17:44+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .