Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP784100.RAU0fI-vmSpcvbnw8z07EaahmxW8Ax6oI_zB41bbLHh9M130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP784100.RAU0fI-vmSpcvbnw8z07EaahmxW8Ax6oI_zB41bbLHh9M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP784100.RAU0fI-vmSpcvbnw8z07EaahmxW8Ax6oI_zB41bbLHh9M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP784100.RAU0fI-vmSpcvbnw8z07EaahmxW8Ax6oI_zB41bbLHh9M130_provenance.
- NP784100.RAU0fI-vmSpcvbnw8z07EaahmxW8Ax6oI_zB41bbLHh9M130_assertion description "[Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP784100.RAU0fI-vmSpcvbnw8z07EaahmxW8Ax6oI_zB41bbLHh9M130_provenance.
- NP784100.RAU0fI-vmSpcvbnw8z07EaahmxW8Ax6oI_zB41bbLHh9M130_assertion evidence source_evidence_literature NP784100.RAU0fI-vmSpcvbnw8z07EaahmxW8Ax6oI_zB41bbLHh9M130_provenance.
- NP784100.RAU0fI-vmSpcvbnw8z07EaahmxW8Ax6oI_zB41bbLHh9M130_assertion SIO_000772 15248101 NP784100.RAU0fI-vmSpcvbnw8z07EaahmxW8Ax6oI_zB41bbLHh9M130_provenance.
- NP784100.RAU0fI-vmSpcvbnw8z07EaahmxW8Ax6oI_zB41bbLHh9M130_assertion wasDerivedFrom befree-20140225 NP784100.RAU0fI-vmSpcvbnw8z07EaahmxW8Ax6oI_zB41bbLHh9M130_provenance.
- NP784100.RAU0fI-vmSpcvbnw8z07EaahmxW8Ax6oI_zB41bbLHh9M130_assertion wasGeneratedBy ECO_0000203 NP784100.RAU0fI-vmSpcvbnw8z07EaahmxW8Ax6oI_zB41bbLHh9M130_provenance.
- befree-20140225 importedOn "2014-02-25" NP784100.RAU0fI-vmSpcvbnw8z07EaahmxW8Ax6oI_zB41bbLHh9M130_provenance.