. . . . . . . . . . . . "[We refer to the phenotype caused by the Lys650Met mutation as `severe achondroplasia with developmental delay and acanthosis nigricans` (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:40:33+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .