Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP5120.RAK-26WtzmKd5ASIQQLkCFkiQWloZKXDuWj5ct4hq-hUY130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_curated type ECO_0000205 NP5120.RAK-26WtzmKd5ASIQQLkCFkiQWloZKXDuWj5ct4hq-hUY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP5120.RAK-26WtzmKd5ASIQQLkCFkiQWloZKXDuWj5ct4hq-hUY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP5120.RAK-26WtzmKd5ASIQQLkCFkiQWloZKXDuWj5ct4hq-hUY130_provenance.
- NP5120.RAK-26WtzmKd5ASIQQLkCFkiQWloZKXDuWj5ct4hq-hUY130_assertion description "[Clinical and molecular analysis of a novel COLQ missense mutation causing congenital myasthenic syndrome in a Syrian family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP5120.RAK-26WtzmKd5ASIQQLkCFkiQWloZKXDuWj5ct4hq-hUY130_provenance.
- NP5120.RAK-26WtzmKd5ASIQQLkCFkiQWloZKXDuWj5ct4hq-hUY130_assertion evidence source_evidence_curated NP5120.RAK-26WtzmKd5ASIQQLkCFkiQWloZKXDuWj5ct4hq-hUY130_provenance.
- NP5120.RAK-26WtzmKd5ASIQQLkCFkiQWloZKXDuWj5ct4hq-hUY130_assertion SIO_000772 24938146 NP5120.RAK-26WtzmKd5ASIQQLkCFkiQWloZKXDuWj5ct4hq-hUY130_provenance.
- NP5120.RAK-26WtzmKd5ASIQQLkCFkiQWloZKXDuWj5ct4hq-hUY130_assertion wasDerivedFrom uniprot-20150221 NP5120.RAK-26WtzmKd5ASIQQLkCFkiQWloZKXDuWj5ct4hq-hUY130_provenance.
- NP5120.RAK-26WtzmKd5ASIQQLkCFkiQWloZKXDuWj5ct4hq-hUY130_assertion wasGeneratedBy ECO_0000218 NP5120.RAK-26WtzmKd5ASIQQLkCFkiQWloZKXDuWj5ct4hq-hUY130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP5120.RAK-26WtzmKd5ASIQQLkCFkiQWloZKXDuWj5ct4hq-hUY130_provenance.