. . . . . . . . . . . . "[We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called `severe achondroplasia with developmental delay and acanthosis nigricans` (SADDAN) [Tavormina et al., 1999: Am.]. 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 . "2014-10-02T12:40:07+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .