Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP313051.RAu-v4Or9AW1AqnA5OivBaYqrWCqe-3K6-LCRMIzaq4C8130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP313051.RAu-v4Or9AW1AqnA5OivBaYqrWCqe-3K6-LCRMIzaq4C8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP313051.RAu-v4Or9AW1AqnA5OivBaYqrWCqe-3K6-LCRMIzaq4C8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP313051.RAu-v4Or9AW1AqnA5OivBaYqrWCqe-3K6-LCRMIzaq4C8130_provenance.
- NP313051.RAu-v4Or9AW1AqnA5OivBaYqrWCqe-3K6-LCRMIzaq4C8130_assertion description "[The present study is the first to report mutations in GPD1-L as a pathogenic cause for a small subset of sudden infant death syndrome via a secondary loss-of-function mechanism whereby perturbations in GPD1-L precipitate a marked decrease in the peak sodium current and a potentially lethal BrS-like proarrhythmic substrate.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP313051.RAu-v4Or9AW1AqnA5OivBaYqrWCqe-3K6-LCRMIzaq4C8130_provenance.
- NP313051.RAu-v4Or9AW1AqnA5OivBaYqrWCqe-3K6-LCRMIzaq4C8130_assertion evidence source_evidence_literature NP313051.RAu-v4Or9AW1AqnA5OivBaYqrWCqe-3K6-LCRMIzaq4C8130_provenance.
- NP313051.RAu-v4Or9AW1AqnA5OivBaYqrWCqe-3K6-LCRMIzaq4C8130_assertion SIO_000772 17967976 NP313051.RAu-v4Or9AW1AqnA5OivBaYqrWCqe-3K6-LCRMIzaq4C8130_provenance.
- NP313051.RAu-v4Or9AW1AqnA5OivBaYqrWCqe-3K6-LCRMIzaq4C8130_assertion wasDerivedFrom befree-20140225 NP313051.RAu-v4Or9AW1AqnA5OivBaYqrWCqe-3K6-LCRMIzaq4C8130_provenance.
- NP313051.RAu-v4Or9AW1AqnA5OivBaYqrWCqe-3K6-LCRMIzaq4C8130_assertion wasGeneratedBy ECO_0000203 NP313051.RAu-v4Or9AW1AqnA5OivBaYqrWCqe-3K6-LCRMIzaq4C8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP313051.RAu-v4Or9AW1AqnA5OivBaYqrWCqe-3K6-LCRMIzaq4C8130_provenance.