Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_assertion> ?p ?o ?g. }
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- NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_assertion type Assertion NP401760.RAB_hI-H6D4C-LIgUsEjiLbVWVZQ_dPpSofY70yR2U0wk130_head.
- 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.