Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_provenance.
- befree-20150227 importedOn "2015-02-27" NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_provenance.
- NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_assertion wasGeneratedBy ECO_0000203 NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_provenance.
- NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_assertion wasDerivedFrom befree-20150227 NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_provenance.
- NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_assertion SIO_000772 23972473 NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_provenance.
- NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_assertion evidence source_evidence_literature NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_provenance.
- NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_assertion description "[The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes Thanatophoric Dysplasia type II, a neonatal lethal congenital dwarfism syndrome, and when acquired somatically, it contributes to carcinogenesis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_provenance.