Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_provenance.
- NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_assertion wasGeneratedBy ECO_0000218 NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_provenance.
- NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_assertion wasDerivedFrom uniprot-20130724 NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_provenance.
- NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_assertion SIO_000772 9665406 NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_provenance.
- NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_assertion evidence source_evidence_curated NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_provenance.
- NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_assertion description "[A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP3670.RAUTog-_wdM-iM-qERMIzfIR_-64lm45UsGMSoJomCOLw130_provenance.