Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP23879.RAF_oxEjUcCKC9URXNi381R7JR9HJvqHKoPo20afEdk88130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP23879.RAF_oxEjUcCKC9URXNi381R7JR9HJvqHKoPo20afEdk88130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP23879.RAF_oxEjUcCKC9URXNi381R7JR9HJvqHKoPo20afEdk88130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP23879.RAF_oxEjUcCKC9URXNi381R7JR9HJvqHKoPo20afEdk88130_provenance.
- NP23879.RAF_oxEjUcCKC9URXNi381R7JR9HJvqHKoPo20afEdk88130_assertion description "[Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP23879.RAF_oxEjUcCKC9URXNi381R7JR9HJvqHKoPo20afEdk88130_provenance.
- NP23879.RAF_oxEjUcCKC9URXNi381R7JR9HJvqHKoPo20afEdk88130_assertion evidence source_evidence_curated NP23879.RAF_oxEjUcCKC9URXNi381R7JR9HJvqHKoPo20afEdk88130_provenance.
- NP23879.RAF_oxEjUcCKC9URXNi381R7JR9HJvqHKoPo20afEdk88130_assertion SIO_000772 22842229 NP23879.RAF_oxEjUcCKC9URXNi381R7JR9HJvqHKoPo20afEdk88130_provenance.
- NP23879.RAF_oxEjUcCKC9URXNi381R7JR9HJvqHKoPo20afEdk88130_assertion wasDerivedFrom ctd_human-20150221 NP23879.RAF_oxEjUcCKC9URXNi381R7JR9HJvqHKoPo20afEdk88130_provenance.
- NP23879.RAF_oxEjUcCKC9URXNi381R7JR9HJvqHKoPo20afEdk88130_assertion wasGeneratedBy ECO_0000218 NP23879.RAF_oxEjUcCKC9URXNi381R7JR9HJvqHKoPo20afEdk88130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP23879.RAF_oxEjUcCKC9URXNi381R7JR9HJvqHKoPo20afEdk88130_provenance.