Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4333.RAOClorgkkGrJEdokzXjHmP3KGNWsNCq6gqVEk_HP7b9E130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4333.RAOClorgkkGrJEdokzXjHmP3KGNWsNCq6gqVEk_HP7b9E130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4333.RAOClorgkkGrJEdokzXjHmP3KGNWsNCq6gqVEk_HP7b9E130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4333.RAOClorgkkGrJEdokzXjHmP3KGNWsNCq6gqVEk_HP7b9E130_provenance.
- NP4333.RAOClorgkkGrJEdokzXjHmP3KGNWsNCq6gqVEk_HP7b9E130_assertion description "[Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4333.RAOClorgkkGrJEdokzXjHmP3KGNWsNCq6gqVEk_HP7b9E130_provenance.
- NP4333.RAOClorgkkGrJEdokzXjHmP3KGNWsNCq6gqVEk_HP7b9E130_assertion evidence source_evidence_curated NP4333.RAOClorgkkGrJEdokzXjHmP3KGNWsNCq6gqVEk_HP7b9E130_provenance.
- NP4333.RAOClorgkkGrJEdokzXjHmP3KGNWsNCq6gqVEk_HP7b9E130_assertion SIO_000772 16384941 NP4333.RAOClorgkkGrJEdokzXjHmP3KGNWsNCq6gqVEk_HP7b9E130_provenance.
- NP4333.RAOClorgkkGrJEdokzXjHmP3KGNWsNCq6gqVEk_HP7b9E130_assertion wasDerivedFrom uniprot-2016 NP4333.RAOClorgkkGrJEdokzXjHmP3KGNWsNCq6gqVEk_HP7b9E130_provenance.
- NP4333.RAOClorgkkGrJEdokzXjHmP3KGNWsNCq6gqVEk_HP7b9E130_assertion wasGeneratedBy ECO_0000218 NP4333.RAOClorgkkGrJEdokzXjHmP3KGNWsNCq6gqVEk_HP7b9E130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4333.RAOClorgkkGrJEdokzXjHmP3KGNWsNCq6gqVEk_HP7b9E130_provenance.