Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP680199.RAfVd8mU72V0wLy-PtGVGOL2S6A66wlBisvGUgITwaCi0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP680199.RAfVd8mU72V0wLy-PtGVGOL2S6A66wlBisvGUgITwaCi0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP680199.RAfVd8mU72V0wLy-PtGVGOL2S6A66wlBisvGUgITwaCi0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP680199.RAfVd8mU72V0wLy-PtGVGOL2S6A66wlBisvGUgITwaCi0130_provenance.
- NP680199.RAfVd8mU72V0wLy-PtGVGOL2S6A66wlBisvGUgITwaCi0130_assertion description "[The recent identification of genetic skin diseases with mutations in the genes encoding some of these proteins, including transglutaminase 1 and loricrin, has disclosed that abnormal cornified cell envelope synthesis is significantly involved in the pathophysiology of certain inherited keratodermas and reflects perturbations in the complex, yet highly orderly process of cornified cell envelope formation in normal skin biology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP680199.RAfVd8mU72V0wLy-PtGVGOL2S6A66wlBisvGUgITwaCi0130_provenance.
- NP680199.RAfVd8mU72V0wLy-PtGVGOL2S6A66wlBisvGUgITwaCi0130_assertion evidence source_evidence_literature NP680199.RAfVd8mU72V0wLy-PtGVGOL2S6A66wlBisvGUgITwaCi0130_provenance.
- NP680199.RAfVd8mU72V0wLy-PtGVGOL2S6A66wlBisvGUgITwaCi0130_assertion SIO_000772 9517915 NP680199.RAfVd8mU72V0wLy-PtGVGOL2S6A66wlBisvGUgITwaCi0130_provenance.
- NP680199.RAfVd8mU72V0wLy-PtGVGOL2S6A66wlBisvGUgITwaCi0130_assertion wasDerivedFrom befree-20140225 NP680199.RAfVd8mU72V0wLy-PtGVGOL2S6A66wlBisvGUgITwaCi0130_provenance.
- NP680199.RAfVd8mU72V0wLy-PtGVGOL2S6A66wlBisvGUgITwaCi0130_assertion wasGeneratedBy ECO_0000203 NP680199.RAfVd8mU72V0wLy-PtGVGOL2S6A66wlBisvGUgITwaCi0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP680199.RAfVd8mU72V0wLy-PtGVGOL2S6A66wlBisvGUgITwaCi0130_provenance.