Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP428575.RAQ-lVBxX6Wrc9STxd8LJ-anEASlZAe_2Y3FPNsplsSuA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP428575.RAQ-lVBxX6Wrc9STxd8LJ-anEASlZAe_2Y3FPNsplsSuA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP428575.RAQ-lVBxX6Wrc9STxd8LJ-anEASlZAe_2Y3FPNsplsSuA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP428575.RAQ-lVBxX6Wrc9STxd8LJ-anEASlZAe_2Y3FPNsplsSuA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP428575.RAQ-lVBxX6Wrc9STxd8LJ-anEASlZAe_2Y3FPNsplsSuA130_provenance.
- NP428575.RAQ-lVBxX6Wrc9STxd8LJ-anEASlZAe_2Y3FPNsplsSuA130_assertion wasGeneratedBy ECO_0000203 NP428575.RAQ-lVBxX6Wrc9STxd8LJ-anEASlZAe_2Y3FPNsplsSuA130_provenance.
- NP428575.RAQ-lVBxX6Wrc9STxd8LJ-anEASlZAe_2Y3FPNsplsSuA130_assertion wasDerivedFrom befree-20150227 NP428575.RAQ-lVBxX6Wrc9STxd8LJ-anEASlZAe_2Y3FPNsplsSuA130_provenance.
- NP428575.RAQ-lVBxX6Wrc9STxd8LJ-anEASlZAe_2Y3FPNsplsSuA130_assertion SIO_000772 19829694 NP428575.RAQ-lVBxX6Wrc9STxd8LJ-anEASlZAe_2Y3FPNsplsSuA130_provenance.
- NP428575.RAQ-lVBxX6Wrc9STxd8LJ-anEASlZAe_2Y3FPNsplsSuA130_assertion evidence source_evidence_literature NP428575.RAQ-lVBxX6Wrc9STxd8LJ-anEASlZAe_2Y3FPNsplsSuA130_provenance.
- NP428575.RAQ-lVBxX6Wrc9STxd8LJ-anEASlZAe_2Y3FPNsplsSuA130_assertion description "[Mutations that lead to loss of function of the protein and to haploinsufficiency cause GCPS, while truncating mutations that result in constitutive repressor function of GLI3 lead to PHS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP428575.RAQ-lVBxX6Wrc9STxd8LJ-anEASlZAe_2Y3FPNsplsSuA130_provenance.