Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP226788.RAgNQWQlQdzxCwVBe_EN6Cv6znVtGzZncWBnE8NWm_uIk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP226788.RAgNQWQlQdzxCwVBe_EN6Cv6znVtGzZncWBnE8NWm_uIk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP226788.RAgNQWQlQdzxCwVBe_EN6Cv6znVtGzZncWBnE8NWm_uIk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP226788.RAgNQWQlQdzxCwVBe_EN6Cv6znVtGzZncWBnE8NWm_uIk130_provenance.
- NP226788.RAgNQWQlQdzxCwVBe_EN6Cv6znVtGzZncWBnE8NWm_uIk130_assertion wasGeneratedBy ECO_0000203 NP226788.RAgNQWQlQdzxCwVBe_EN6Cv6znVtGzZncWBnE8NWm_uIk130_provenance.
- NP226788.RAgNQWQlQdzxCwVBe_EN6Cv6znVtGzZncWBnE8NWm_uIk130_assertion wasDerivedFrom befree-20140225 NP226788.RAgNQWQlQdzxCwVBe_EN6Cv6znVtGzZncWBnE8NWm_uIk130_provenance.
- NP226788.RAgNQWQlQdzxCwVBe_EN6Cv6znVtGzZncWBnE8NWm_uIk130_assertion SIO_000772 8225311 NP226788.RAgNQWQlQdzxCwVBe_EN6Cv6znVtGzZncWBnE8NWm_uIk130_provenance.
- NP226788.RAgNQWQlQdzxCwVBe_EN6Cv6znVtGzZncWBnE8NWm_uIk130_assertion evidence source_evidence_literature NP226788.RAgNQWQlQdzxCwVBe_EN6Cv6znVtGzZncWBnE8NWm_uIk130_provenance.
- NP226788.RAgNQWQlQdzxCwVBe_EN6Cv6znVtGzZncWBnE8NWm_uIk130_assertion description "[Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP226788.RAgNQWQlQdzxCwVBe_EN6Cv6znVtGzZncWBnE8NWm_uIk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP226788.RAgNQWQlQdzxCwVBe_EN6Cv6znVtGzZncWBnE8NWm_uIk130_provenance.