Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_provenance.
- NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_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." NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_provenance.
- NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_assertion evidence source_evidence_curated NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_provenance.
- NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_assertion SIO_000772 22842229 NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_provenance.
- NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_assertion wasDerivedFrom ctd_human-2016 NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_provenance.
- NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_assertion wasGeneratedBy ECO_0000218 NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP31627.RA0DDntWvc_QmQ8qnXCIS-N3WlVA4qffHQP-m5gS3T9ew130_provenance.