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- source_evidence_literature type ECO_0000212 NP401146.RAKKJqsK6FSGmbIx767WUdd3l5lGKNqGX7klqo8YKyGRk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP401146.RAKKJqsK6FSGmbIx767WUdd3l5lGKNqGX7klqo8YKyGRk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP401146.RAKKJqsK6FSGmbIx767WUdd3l5lGKNqGX7klqo8YKyGRk130_provenance.
- 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.
- NP401146.RAKKJqsK6FSGmbIx767WUdd3l5lGKNqGX7klqo8YKyGRk130_assertion evidence source_evidence_literature NP401146.RAKKJqsK6FSGmbIx767WUdd3l5lGKNqGX7klqo8YKyGRk130_provenance.
- NP401146.RAKKJqsK6FSGmbIx767WUdd3l5lGKNqGX7klqo8YKyGRk130_assertion SIO_000772 10377013 NP401146.RAKKJqsK6FSGmbIx767WUdd3l5lGKNqGX7klqo8YKyGRk130_provenance.
- NP401146.RAKKJqsK6FSGmbIx767WUdd3l5lGKNqGX7klqo8YKyGRk130_assertion wasDerivedFrom befree-20150227 NP401146.RAKKJqsK6FSGmbIx767WUdd3l5lGKNqGX7klqo8YKyGRk130_provenance.
- NP401146.RAKKJqsK6FSGmbIx767WUdd3l5lGKNqGX7klqo8YKyGRk130_assertion wasGeneratedBy ECO_0000203 NP401146.RAKKJqsK6FSGmbIx767WUdd3l5lGKNqGX7klqo8YKyGRk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP401146.RAKKJqsK6FSGmbIx767WUdd3l5lGKNqGX7klqo8YKyGRk130_provenance.