Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_provenance.
- NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_assertion description "[Phenotypic divergence is exemplified by different CLN8 mutations giving rise to two very different diseases, the mild CLN8 disease, EPMR (progressive epilepsy with mental retardation), and the more severe CLN8 disease, late infantile variant.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_provenance.
- NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_assertion evidence source_evidence_curated NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_provenance.
- NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_assertion SIO_000772 21990111 NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_provenance.
- NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_assertion wasDerivedFrom uniprot-20130724 NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_provenance.
- NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_assertion wasGeneratedBy ECO_0000218 NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1223.RACO6u_37kN_JPVnhu9HlzcqwGWIhJ5crhVzQK5VPz0Eg130_provenance.