Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9812.RA31-AjWA1C1H72MpYQlxzSCjEAXxo_TJKyxTbtSnXbnM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9812.RA31-AjWA1C1H72MpYQlxzSCjEAXxo_TJKyxTbtSnXbnM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9812.RA31-AjWA1C1H72MpYQlxzSCjEAXxo_TJKyxTbtSnXbnM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9812.RA31-AjWA1C1H72MpYQlxzSCjEAXxo_TJKyxTbtSnXbnM130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9812.RA31-AjWA1C1H72MpYQlxzSCjEAXxo_TJKyxTbtSnXbnM130_provenance.
- NP9812.RA31-AjWA1C1H72MpYQlxzSCjEAXxo_TJKyxTbtSnXbnM130_assertion wasGeneratedBy ECO_0000218 NP9812.RA31-AjWA1C1H72MpYQlxzSCjEAXxo_TJKyxTbtSnXbnM130_provenance.
- NP9812.RA31-AjWA1C1H72MpYQlxzSCjEAXxo_TJKyxTbtSnXbnM130_assertion wasDerivedFrom uniprot-2016 NP9812.RA31-AjWA1C1H72MpYQlxzSCjEAXxo_TJKyxTbtSnXbnM130_provenance.
- NP9812.RA31-AjWA1C1H72MpYQlxzSCjEAXxo_TJKyxTbtSnXbnM130_assertion SIO_000772 9665406 NP9812.RA31-AjWA1C1H72MpYQlxzSCjEAXxo_TJKyxTbtSnXbnM130_provenance.
- NP9812.RA31-AjWA1C1H72MpYQlxzSCjEAXxo_TJKyxTbtSnXbnM130_assertion evidence source_evidence_curated NP9812.RA31-AjWA1C1H72MpYQlxzSCjEAXxo_TJKyxTbtSnXbnM130_provenance.
- NP9812.RA31-AjWA1C1H72MpYQlxzSCjEAXxo_TJKyxTbtSnXbnM130_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." NP9812.RA31-AjWA1C1H72MpYQlxzSCjEAXxo_TJKyxTbtSnXbnM130_provenance.