. . . . . . . "[Constitutional heterozygous loss-of-function mutations in the SPRED1 gene cause a phenotype known as Legius syndrome, which consists of symptoms of multiple caf�-au-lait macules, axillary freckling, learning disabilities, and macrocephaly.]. 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 . "2017-10-17T13:19:09+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .