Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_provenance.
- NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_assertion description "[A young patient diagnosed with a congenital disorder of glycosylation characterized by an intracellular accumulation of DolPP-GlcNAc(2)Man(5) was found to carry a homozygous point mutation in the RFT1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_provenance.
- NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_assertion evidence source_evidence_literature NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_provenance.
- NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_assertion SIO_000772 18313027 NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_provenance.
- NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_assertion wasDerivedFrom befree-20140225 NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_provenance.
- NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_assertion wasGeneratedBy ECO_0000203 NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_provenance.
- befree-20140225 importedOn "2014-02-25" NP466652.RAwCg3xXwF6MTvxQGpCxbeSigiexXFrSnVX7goAiJEXiI130_provenance.