Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4879.RAPpHG-L_Fu-7vW8Sn8XcK3OzJXglI9ECb3VrTAKiJb9c130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4879.RAPpHG-L_Fu-7vW8Sn8XcK3OzJXglI9ECb3VrTAKiJb9c130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4879.RAPpHG-L_Fu-7vW8Sn8XcK3OzJXglI9ECb3VrTAKiJb9c130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4879.RAPpHG-L_Fu-7vW8Sn8XcK3OzJXglI9ECb3VrTAKiJb9c130_provenance.
- NP4879.RAPpHG-L_Fu-7vW8Sn8XcK3OzJXglI9ECb3VrTAKiJb9c130_assertion description "[Missense mutations in the BCS1L gene as a cause of the Bj�rnstad syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4879.RAPpHG-L_Fu-7vW8Sn8XcK3OzJXglI9ECb3VrTAKiJb9c130_provenance.
- NP4879.RAPpHG-L_Fu-7vW8Sn8XcK3OzJXglI9ECb3VrTAKiJb9c130_assertion evidence source_evidence_curated NP4879.RAPpHG-L_Fu-7vW8Sn8XcK3OzJXglI9ECb3VrTAKiJb9c130_provenance.
- NP4879.RAPpHG-L_Fu-7vW8Sn8XcK3OzJXglI9ECb3VrTAKiJb9c130_assertion SIO_000772 17314340 NP4879.RAPpHG-L_Fu-7vW8Sn8XcK3OzJXglI9ECb3VrTAKiJb9c130_provenance.
- NP4879.RAPpHG-L_Fu-7vW8Sn8XcK3OzJXglI9ECb3VrTAKiJb9c130_assertion wasDerivedFrom uniprot-2016 NP4879.RAPpHG-L_Fu-7vW8Sn8XcK3OzJXglI9ECb3VrTAKiJb9c130_provenance.
- NP4879.RAPpHG-L_Fu-7vW8Sn8XcK3OzJXglI9ECb3VrTAKiJb9c130_assertion wasGeneratedBy ECO_0000218 NP4879.RAPpHG-L_Fu-7vW8Sn8XcK3OzJXglI9ECb3VrTAKiJb9c130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP4879.RAPpHG-L_Fu-7vW8Sn8XcK3OzJXglI9ECb3VrTAKiJb9c130_provenance.