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- source_evidence_literature type ECO_0000212 NP792611.RAW7aWB6gfDntQqla3gVRlYS_ur4mhH_vPuQdzQXRBJLo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP792611.RAW7aWB6gfDntQqla3gVRlYS_ur4mhH_vPuQdzQXRBJLo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP792611.RAW7aWB6gfDntQqla3gVRlYS_ur4mhH_vPuQdzQXRBJLo130_provenance.
- NP792611.RAW7aWB6gfDntQqla3gVRlYS_ur4mhH_vPuQdzQXRBJLo130_assertion description "[Functional studies, including chondrogenesis assays with primary mesenchymal cells, luciferase reporter gene assays and Surface Plasmon Resonance analysis, of the GDF5(W414R) variant in comparison to other GDF5 mutations associated with isolated BDA1 (p.R399C) or SYNS2 (p.E491K) revealed a dual pathomechanism characterized by a gain- and loss-of-function at the same time.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP792611.RAW7aWB6gfDntQqla3gVRlYS_ur4mhH_vPuQdzQXRBJLo130_provenance.
- NP792611.RAW7aWB6gfDntQqla3gVRlYS_ur4mhH_vPuQdzQXRBJLo130_assertion evidence source_evidence_literature NP792611.RAW7aWB6gfDntQqla3gVRlYS_ur4mhH_vPuQdzQXRBJLo130_provenance.
- NP792611.RAW7aWB6gfDntQqla3gVRlYS_ur4mhH_vPuQdzQXRBJLo130_assertion SIO_000772 24098149 NP792611.RAW7aWB6gfDntQqla3gVRlYS_ur4mhH_vPuQdzQXRBJLo130_provenance.
- NP792611.RAW7aWB6gfDntQqla3gVRlYS_ur4mhH_vPuQdzQXRBJLo130_assertion wasDerivedFrom befree-20150227 NP792611.RAW7aWB6gfDntQqla3gVRlYS_ur4mhH_vPuQdzQXRBJLo130_provenance.
- NP792611.RAW7aWB6gfDntQqla3gVRlYS_ur4mhH_vPuQdzQXRBJLo130_assertion wasGeneratedBy ECO_0000203 NP792611.RAW7aWB6gfDntQqla3gVRlYS_ur4mhH_vPuQdzQXRBJLo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP792611.RAW7aWB6gfDntQqla3gVRlYS_ur4mhH_vPuQdzQXRBJLo130_provenance.