Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_provenance.
- befree-2016 importedOn "2016-02-19" NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_provenance.
- NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_assertion wasGeneratedBy ECO_0000203 NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_provenance.
- NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_assertion wasDerivedFrom befree-2016 NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_provenance.
- NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_assertion SIO_000772 16032383 NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_provenance.
- NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_assertion evidence source_evidence_literature NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_provenance.
- NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_assertion description "[The common familial dysautonomia (FD) mutation causes a splicing defect that leads to production of both wild-type (WT) and mutant (MU) IKBKAP mRNA.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP505009.RADyFwsQpp33LaN7dlOy2vNwfFQb-0xhVF90b9Dxn0FUI130_provenance.