Matches in Nanopublications for { ?s ?p "[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 ?g. }
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- NP401146.RAKKJqsK6FSGmbIx767WUdd3l5lGKNqGX7klqo8YKyGRk130_assertion description "[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." NP401146.RAKKJqsK6FSGmbIx767WUdd3l5lGKNqGX7klqo8YKyGRk130_provenance.