Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_provenance.
- NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_assertion wasGeneratedBy ECO_0000218 NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_provenance.
- NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_assertion wasDerivedFrom uniprot-20130724 NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_provenance.
- NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_assertion SIO_000772 23456818 NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_provenance.
- NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_assertion evidence source_evidence_curated NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_provenance.
- NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_assertion description "[Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP1866.RATMh6lTvKB3SSo1rwdoEcjV0UNMDhfAPIw_dCf61JxW4130_provenance.