Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP605057.RAWoMxPW5OGSHSRisZFd4hhoEaeos4rUlPdiHn3NTbo5Y130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP605057.RAWoMxPW5OGSHSRisZFd4hhoEaeos4rUlPdiHn3NTbo5Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP605057.RAWoMxPW5OGSHSRisZFd4hhoEaeos4rUlPdiHn3NTbo5Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP605057.RAWoMxPW5OGSHSRisZFd4hhoEaeos4rUlPdiHn3NTbo5Y130_provenance.
- NP605057.RAWoMxPW5OGSHSRisZFd4hhoEaeos4rUlPdiHn3NTbo5Y130_assertion description "[We describe, for the first time in literature, a RTS Caucasian girl, 14-year-old, with growth hormone (GH) deficiency, pituitary hypoplasia, Arnold Chiari malformation type 1, double syringomyelic cavity and a novel CREBBP mutation (c.3546insCC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP605057.RAWoMxPW5OGSHSRisZFd4hhoEaeos4rUlPdiHn3NTbo5Y130_provenance.
- NP605057.RAWoMxPW5OGSHSRisZFd4hhoEaeos4rUlPdiHn3NTbo5Y130_assertion evidence source_evidence_literature NP605057.RAWoMxPW5OGSHSRisZFd4hhoEaeos4rUlPdiHn3NTbo5Y130_provenance.
- NP605057.RAWoMxPW5OGSHSRisZFd4hhoEaeos4rUlPdiHn3NTbo5Y130_assertion SIO_000772 23432975 NP605057.RAWoMxPW5OGSHSRisZFd4hhoEaeos4rUlPdiHn3NTbo5Y130_provenance.
- NP605057.RAWoMxPW5OGSHSRisZFd4hhoEaeos4rUlPdiHn3NTbo5Y130_assertion wasDerivedFrom befree-20140225 NP605057.RAWoMxPW5OGSHSRisZFd4hhoEaeos4rUlPdiHn3NTbo5Y130_provenance.
- NP605057.RAWoMxPW5OGSHSRisZFd4hhoEaeos4rUlPdiHn3NTbo5Y130_assertion wasGeneratedBy ECO_0000203 NP605057.RAWoMxPW5OGSHSRisZFd4hhoEaeos4rUlPdiHn3NTbo5Y130_provenance.
- befree-20140225 importedOn "2014-02-25" NP605057.RAWoMxPW5OGSHSRisZFd4hhoEaeos4rUlPdiHn3NTbo5Y130_provenance.