Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_provenance.
- NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_assertion description "[In a 7-year-old boy with Dowling-Meara type EBS (DM-EBS), who had severe skin symptoms with extended herpetiform blisters, a novel amino acid substitution N123K in keratin 14 had been detected.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_provenance.
- NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_assertion evidence source_evidence_literature NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_provenance.
- NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_assertion SIO_000772 14987259 NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_provenance.
- NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_assertion wasDerivedFrom befree-20140225 NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_provenance.
- NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_assertion wasGeneratedBy ECO_0000203 NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_provenance.
- befree-20140225 importedOn "2014-02-25" NP660853.RAD5D6sew3QtN9ZSgJhAAc6HVOJSOTXO0qO_nNuKrrt0M130_provenance.