Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1266969.RAgrksWxSCpmA8PJ0eb9T3MZv6e2T8amnfQ0u-BjRIfC4130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP1266969.RAgrksWxSCpmA8PJ0eb9T3MZv6e2T8amnfQ0u-BjRIfC4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1266969.RAgrksWxSCpmA8PJ0eb9T3MZv6e2T8amnfQ0u-BjRIfC4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1266969.RAgrksWxSCpmA8PJ0eb9T3MZv6e2T8amnfQ0u-BjRIfC4130_provenance.
- NP1266969.RAgrksWxSCpmA8PJ0eb9T3MZv6e2T8amnfQ0u-BjRIfC4130_assertion description "[De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266969.RAgrksWxSCpmA8PJ0eb9T3MZv6e2T8amnfQ0u-BjRIfC4130_provenance.
- NP1266969.RAgrksWxSCpmA8PJ0eb9T3MZv6e2T8amnfQ0u-BjRIfC4130_assertion evidence source_evidence_literature NP1266969.RAgrksWxSCpmA8PJ0eb9T3MZv6e2T8amnfQ0u-BjRIfC4130_provenance.
- NP1266969.RAgrksWxSCpmA8PJ0eb9T3MZv6e2T8amnfQ0u-BjRIfC4130_assertion SIO_000772 25725044 NP1266969.RAgrksWxSCpmA8PJ0eb9T3MZv6e2T8amnfQ0u-BjRIfC4130_provenance.
- NP1266969.RAgrksWxSCpmA8PJ0eb9T3MZv6e2T8amnfQ0u-BjRIfC4130_assertion wasDerivedFrom befree-2016 NP1266969.RAgrksWxSCpmA8PJ0eb9T3MZv6e2T8amnfQ0u-BjRIfC4130_provenance.
- NP1266969.RAgrksWxSCpmA8PJ0eb9T3MZv6e2T8amnfQ0u-BjRIfC4130_assertion wasGeneratedBy ECO_0000203 NP1266969.RAgrksWxSCpmA8PJ0eb9T3MZv6e2T8amnfQ0u-BjRIfC4130_provenance.
- befree-2016 importedOn "2016-02-19" NP1266969.RAgrksWxSCpmA8PJ0eb9T3MZv6e2T8amnfQ0u-BjRIfC4130_provenance.