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- source_evidence_literature type ECO_0000212 NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_provenance.
- NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_assertion description "[Dravet syndrome is a childhood disorder associated with loss-of-function mutations in SCN1A and is characterized by frequent seizures and severe cognitive impairment, thus well illustrating the concept of epileptic encephalopathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_provenance.
- NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_assertion evidence source_evidence_literature NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_provenance.
- NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_assertion SIO_000772 24571113 NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_provenance.
- NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_assertion wasDerivedFrom befree-2016 NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_provenance.
- NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_assertion wasGeneratedBy ECO_0000203 NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1158223.RA-F4Jc4uecAhzjLfEnyKQxYmWDObiyDghff6aqmEGdiQ130_provenance.