Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP3596.RA6GnwoWm_0__0ReJzRBgGgrrchLy_jXHlCjAVtYqG2BM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP3596.RA6GnwoWm_0__0ReJzRBgGgrrchLy_jXHlCjAVtYqG2BM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP3596.RA6GnwoWm_0__0ReJzRBgGgrrchLy_jXHlCjAVtYqG2BM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP3596.RA6GnwoWm_0__0ReJzRBgGgrrchLy_jXHlCjAVtYqG2BM130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP3596.RA6GnwoWm_0__0ReJzRBgGgrrchLy_jXHlCjAVtYqG2BM130_provenance.
- NP3596.RA6GnwoWm_0__0ReJzRBgGgrrchLy_jXHlCjAVtYqG2BM130_assertion wasGeneratedBy ECO_0000218 NP3596.RA6GnwoWm_0__0ReJzRBgGgrrchLy_jXHlCjAVtYqG2BM130_provenance.
- NP3596.RA6GnwoWm_0__0ReJzRBgGgrrchLy_jXHlCjAVtYqG2BM130_assertion wasDerivedFrom uniprot-20150221 NP3596.RA6GnwoWm_0__0ReJzRBgGgrrchLy_jXHlCjAVtYqG2BM130_provenance.
- NP3596.RA6GnwoWm_0__0ReJzRBgGgrrchLy_jXHlCjAVtYqG2BM130_assertion SIO_000772 9665406 NP3596.RA6GnwoWm_0__0ReJzRBgGgrrchLy_jXHlCjAVtYqG2BM130_provenance.
- NP3596.RA6GnwoWm_0__0ReJzRBgGgrrchLy_jXHlCjAVtYqG2BM130_assertion evidence source_evidence_curated NP3596.RA6GnwoWm_0__0ReJzRBgGgrrchLy_jXHlCjAVtYqG2BM130_provenance.
- NP3596.RA6GnwoWm_0__0ReJzRBgGgrrchLy_jXHlCjAVtYqG2BM130_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." NP3596.RA6GnwoWm_0__0ReJzRBgGgrrchLy_jXHlCjAVtYqG2BM130_provenance.