Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4471.RAmWf5krFfPvycW0Wvf2QEK57b8oJMgDvIakKV9jj2n1E130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4471.RAmWf5krFfPvycW0Wvf2QEK57b8oJMgDvIakKV9jj2n1E130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4471.RAmWf5krFfPvycW0Wvf2QEK57b8oJMgDvIakKV9jj2n1E130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4471.RAmWf5krFfPvycW0Wvf2QEK57b8oJMgDvIakKV9jj2n1E130_provenance.
- NP4471.RAmWf5krFfPvycW0Wvf2QEK57b8oJMgDvIakKV9jj2n1E130_assertion description "[Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4471.RAmWf5krFfPvycW0Wvf2QEK57b8oJMgDvIakKV9jj2n1E130_provenance.
- NP4471.RAmWf5krFfPvycW0Wvf2QEK57b8oJMgDvIakKV9jj2n1E130_assertion evidence source_evidence_curated NP4471.RAmWf5krFfPvycW0Wvf2QEK57b8oJMgDvIakKV9jj2n1E130_provenance.
- NP4471.RAmWf5krFfPvycW0Wvf2QEK57b8oJMgDvIakKV9jj2n1E130_assertion SIO_000772 23222558 NP4471.RAmWf5krFfPvycW0Wvf2QEK57b8oJMgDvIakKV9jj2n1E130_provenance.
- NP4471.RAmWf5krFfPvycW0Wvf2QEK57b8oJMgDvIakKV9jj2n1E130_assertion wasDerivedFrom uniprot-20150221 NP4471.RAmWf5krFfPvycW0Wvf2QEK57b8oJMgDvIakKV9jj2n1E130_provenance.
- NP4471.RAmWf5krFfPvycW0Wvf2QEK57b8oJMgDvIakKV9jj2n1E130_assertion wasGeneratedBy ECO_0000218 NP4471.RAmWf5krFfPvycW0Wvf2QEK57b8oJMgDvIakKV9jj2n1E130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP4471.RAmWf5krFfPvycW0Wvf2QEK57b8oJMgDvIakKV9jj2n1E130_provenance.