Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP5474.RAPdHZ9Cm5loo6sj-YQXi7ifmV2c7BtiHAfbGJh3pfLT4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP5474.RAPdHZ9Cm5loo6sj-YQXi7ifmV2c7BtiHAfbGJh3pfLT4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5474.RAPdHZ9Cm5loo6sj-YQXi7ifmV2c7BtiHAfbGJh3pfLT4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5474.RAPdHZ9Cm5loo6sj-YQXi7ifmV2c7BtiHAfbGJh3pfLT4130_provenance.
- NP5474.RAPdHZ9Cm5loo6sj-YQXi7ifmV2c7BtiHAfbGJh3pfLT4130_assertion description "[These findings strongly implicate defects of RDH5 as the cause of fundus albipunctatus and point to a heterogeneity of RDH5 mutations in this form of congenital stationary night blindness with variable expressivity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5474.RAPdHZ9Cm5loo6sj-YQXi7ifmV2c7BtiHAfbGJh3pfLT4130_provenance.
- NP5474.RAPdHZ9Cm5loo6sj-YQXi7ifmV2c7BtiHAfbGJh3pfLT4130_assertion evidence source_evidence_curated NP5474.RAPdHZ9Cm5loo6sj-YQXi7ifmV2c7BtiHAfbGJh3pfLT4130_provenance.
- NP5474.RAPdHZ9Cm5loo6sj-YQXi7ifmV2c7BtiHAfbGJh3pfLT4130_assertion SIO_000772 10617778 NP5474.RAPdHZ9Cm5loo6sj-YQXi7ifmV2c7BtiHAfbGJh3pfLT4130_provenance.
- NP5474.RAPdHZ9Cm5loo6sj-YQXi7ifmV2c7BtiHAfbGJh3pfLT4130_assertion wasDerivedFrom uniprot-20130724 NP5474.RAPdHZ9Cm5loo6sj-YQXi7ifmV2c7BtiHAfbGJh3pfLT4130_provenance.
- NP5474.RAPdHZ9Cm5loo6sj-YQXi7ifmV2c7BtiHAfbGJh3pfLT4130_assertion wasGeneratedBy ECO_0000218 NP5474.RAPdHZ9Cm5loo6sj-YQXi7ifmV2c7BtiHAfbGJh3pfLT4130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP5474.RAPdHZ9Cm5loo6sj-YQXi7ifmV2c7BtiHAfbGJh3pfLT4130_provenance.