Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1455.RAspou5beaqzngt68EWIibaOGI7cyzs2oo3Sl9tb2IXAA130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1455.RAspou5beaqzngt68EWIibaOGI7cyzs2oo3Sl9tb2IXAA130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1455.RAspou5beaqzngt68EWIibaOGI7cyzs2oo3Sl9tb2IXAA130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1455.RAspou5beaqzngt68EWIibaOGI7cyzs2oo3Sl9tb2IXAA130_provenance.
- NP1455.RAspou5beaqzngt68EWIibaOGI7cyzs2oo3Sl9tb2IXAA130_assertion description "[Toenail dystrophy with COL7A1 glycine substitution mutations segregates as an autosomal dominant trait in 2 families with dystrophic epidermolysis bullosa.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1455.RAspou5beaqzngt68EWIibaOGI7cyzs2oo3Sl9tb2IXAA130_provenance.
- NP1455.RAspou5beaqzngt68EWIibaOGI7cyzs2oo3Sl9tb2IXAA130_assertion evidence source_evidence_curated NP1455.RAspou5beaqzngt68EWIibaOGI7cyzs2oo3Sl9tb2IXAA130_provenance.
- NP1455.RAspou5beaqzngt68EWIibaOGI7cyzs2oo3Sl9tb2IXAA130_assertion SIO_000772 11843659 NP1455.RAspou5beaqzngt68EWIibaOGI7cyzs2oo3Sl9tb2IXAA130_provenance.
- NP1455.RAspou5beaqzngt68EWIibaOGI7cyzs2oo3Sl9tb2IXAA130_assertion wasDerivedFrom uniprot-20130724 NP1455.RAspou5beaqzngt68EWIibaOGI7cyzs2oo3Sl9tb2IXAA130_provenance.
- NP1455.RAspou5beaqzngt68EWIibaOGI7cyzs2oo3Sl9tb2IXAA130_assertion wasGeneratedBy ECO_0000218 NP1455.RAspou5beaqzngt68EWIibaOGI7cyzs2oo3Sl9tb2IXAA130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1455.RAspou5beaqzngt68EWIibaOGI7cyzs2oo3Sl9tb2IXAA130_provenance.