Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_provenance.
- NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_assertion wasGeneratedBy ECO_0000218 NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_provenance.
- NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_assertion wasDerivedFrom uniprot-20130724 NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_provenance.
- NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_assertion SIO_000772 15140024 NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_provenance.
- NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_assertion evidence source_evidence_curated NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_provenance.
- NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_assertion description "[A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3642.RAbrkZonJRkzjcebABzLFdULelA68ukCnxx2Z70Jgsq5c130_provenance.