Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP354398.RA3DPK3Jx1iIyI46LQOtNfz2DRJZOSvECgF1L9R2QegY4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP354398.RA3DPK3Jx1iIyI46LQOtNfz2DRJZOSvECgF1L9R2QegY4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP354398.RA3DPK3Jx1iIyI46LQOtNfz2DRJZOSvECgF1L9R2QegY4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP354398.RA3DPK3Jx1iIyI46LQOtNfz2DRJZOSvECgF1L9R2QegY4130_provenance.
- NP354398.RA3DPK3Jx1iIyI46LQOtNfz2DRJZOSvECgF1L9R2QegY4130_assertion description "[Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP354398.RA3DPK3Jx1iIyI46LQOtNfz2DRJZOSvECgF1L9R2QegY4130_provenance.
- NP354398.RA3DPK3Jx1iIyI46LQOtNfz2DRJZOSvECgF1L9R2QegY4130_assertion evidence source_evidence_literature NP354398.RA3DPK3Jx1iIyI46LQOtNfz2DRJZOSvECgF1L9R2QegY4130_provenance.
- NP354398.RA3DPK3Jx1iIyI46LQOtNfz2DRJZOSvECgF1L9R2QegY4130_assertion SIO_000772 23161826 NP354398.RA3DPK3Jx1iIyI46LQOtNfz2DRJZOSvECgF1L9R2QegY4130_provenance.
- NP354398.RA3DPK3Jx1iIyI46LQOtNfz2DRJZOSvECgF1L9R2QegY4130_assertion wasDerivedFrom befree-20140225 NP354398.RA3DPK3Jx1iIyI46LQOtNfz2DRJZOSvECgF1L9R2QegY4130_provenance.
- NP354398.RA3DPK3Jx1iIyI46LQOtNfz2DRJZOSvECgF1L9R2QegY4130_assertion wasGeneratedBy ECO_0000203 NP354398.RA3DPK3Jx1iIyI46LQOtNfz2DRJZOSvECgF1L9R2QegY4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP354398.RA3DPK3Jx1iIyI46LQOtNfz2DRJZOSvECgF1L9R2QegY4130_provenance.