Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP428838.RAnxKxICRXcSngNkCPJzmxi4-H4eXaQigzJhPSHTN8nrE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP428838.RAnxKxICRXcSngNkCPJzmxi4-H4eXaQigzJhPSHTN8nrE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP428838.RAnxKxICRXcSngNkCPJzmxi4-H4eXaQigzJhPSHTN8nrE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP428838.RAnxKxICRXcSngNkCPJzmxi4-H4eXaQigzJhPSHTN8nrE130_provenance.
- NP428838.RAnxKxICRXcSngNkCPJzmxi4-H4eXaQigzJhPSHTN8nrE130_assertion description "[Hereditary hyperekplexia is a dominant neurological disorder associated with point mutations at the channel-forming segment M2 of the glycine receptor alpha 1 subunit.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP428838.RAnxKxICRXcSngNkCPJzmxi4-H4eXaQigzJhPSHTN8nrE130_provenance.
- NP428838.RAnxKxICRXcSngNkCPJzmxi4-H4eXaQigzJhPSHTN8nrE130_assertion evidence source_evidence_literature NP428838.RAnxKxICRXcSngNkCPJzmxi4-H4eXaQigzJhPSHTN8nrE130_provenance.
- NP428838.RAnxKxICRXcSngNkCPJzmxi4-H4eXaQigzJhPSHTN8nrE130_assertion SIO_000772 7925268 NP428838.RAnxKxICRXcSngNkCPJzmxi4-H4eXaQigzJhPSHTN8nrE130_provenance.
- NP428838.RAnxKxICRXcSngNkCPJzmxi4-H4eXaQigzJhPSHTN8nrE130_assertion wasDerivedFrom befree-20150227 NP428838.RAnxKxICRXcSngNkCPJzmxi4-H4eXaQigzJhPSHTN8nrE130_provenance.
- NP428838.RAnxKxICRXcSngNkCPJzmxi4-H4eXaQigzJhPSHTN8nrE130_assertion wasGeneratedBy ECO_0000203 NP428838.RAnxKxICRXcSngNkCPJzmxi4-H4eXaQigzJhPSHTN8nrE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP428838.RAnxKxICRXcSngNkCPJzmxi4-H4eXaQigzJhPSHTN8nrE130_provenance.