Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6170.RADyhCnThLARIsDqWeXGZP2t770M4RTSJUTaokJgoBuAg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6170.RADyhCnThLARIsDqWeXGZP2t770M4RTSJUTaokJgoBuAg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6170.RADyhCnThLARIsDqWeXGZP2t770M4RTSJUTaokJgoBuAg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6170.RADyhCnThLARIsDqWeXGZP2t770M4RTSJUTaokJgoBuAg130_provenance.
- NP6170.RADyhCnThLARIsDqWeXGZP2t770M4RTSJUTaokJgoBuAg130_assertion description "[Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6170.RADyhCnThLARIsDqWeXGZP2t770M4RTSJUTaokJgoBuAg130_provenance.
- NP6170.RADyhCnThLARIsDqWeXGZP2t770M4RTSJUTaokJgoBuAg130_assertion evidence source_evidence_curated NP6170.RADyhCnThLARIsDqWeXGZP2t770M4RTSJUTaokJgoBuAg130_provenance.
- NP6170.RADyhCnThLARIsDqWeXGZP2t770M4RTSJUTaokJgoBuAg130_assertion SIO_000772 20358602 NP6170.RADyhCnThLARIsDqWeXGZP2t770M4RTSJUTaokJgoBuAg130_provenance.
- NP6170.RADyhCnThLARIsDqWeXGZP2t770M4RTSJUTaokJgoBuAg130_assertion wasDerivedFrom uniprot-2016 NP6170.RADyhCnThLARIsDqWeXGZP2t770M4RTSJUTaokJgoBuAg130_provenance.
- NP6170.RADyhCnThLARIsDqWeXGZP2t770M4RTSJUTaokJgoBuAg130_assertion wasGeneratedBy ECO_0000218 NP6170.RADyhCnThLARIsDqWeXGZP2t770M4RTSJUTaokJgoBuAg130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6170.RADyhCnThLARIsDqWeXGZP2t770M4RTSJUTaokJgoBuAg130_provenance.