Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP24185.RAgo6mIiEubTGuZho-DaxtRgTgBKl2E-R3f4YzWxqHZmc130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP24185.RAgo6mIiEubTGuZho-DaxtRgTgBKl2E-R3f4YzWxqHZmc130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP24185.RAgo6mIiEubTGuZho-DaxtRgTgBKl2E-R3f4YzWxqHZmc130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP24185.RAgo6mIiEubTGuZho-DaxtRgTgBKl2E-R3f4YzWxqHZmc130_provenance.
- NP24185.RAgo6mIiEubTGuZho-DaxtRgTgBKl2E-R3f4YzWxqHZmc130_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." NP24185.RAgo6mIiEubTGuZho-DaxtRgTgBKl2E-R3f4YzWxqHZmc130_provenance.
- NP24185.RAgo6mIiEubTGuZho-DaxtRgTgBKl2E-R3f4YzWxqHZmc130_assertion evidence source_evidence_curated NP24185.RAgo6mIiEubTGuZho-DaxtRgTgBKl2E-R3f4YzWxqHZmc130_provenance.
- NP24185.RAgo6mIiEubTGuZho-DaxtRgTgBKl2E-R3f4YzWxqHZmc130_assertion SIO_000772 22842229 NP24185.RAgo6mIiEubTGuZho-DaxtRgTgBKl2E-R3f4YzWxqHZmc130_provenance.
- NP24185.RAgo6mIiEubTGuZho-DaxtRgTgBKl2E-R3f4YzWxqHZmc130_assertion wasDerivedFrom ctd_human-20130708 NP24185.RAgo6mIiEubTGuZho-DaxtRgTgBKl2E-R3f4YzWxqHZmc130_provenance.
- NP24185.RAgo6mIiEubTGuZho-DaxtRgTgBKl2E-R3f4YzWxqHZmc130_assertion wasGeneratedBy ECO_0000218 NP24185.RAgo6mIiEubTGuZho-DaxtRgTgBKl2E-R3f4YzWxqHZmc130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP24185.RAgo6mIiEubTGuZho-DaxtRgTgBKl2E-R3f4YzWxqHZmc130_provenance.