Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_provenance.
- NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_assertion description "[We report two patients with partial laminin-?2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_provenance.
- NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_assertion evidence source_evidence_literature NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_provenance.
- NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_assertion SIO_000772 24534542 NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_provenance.
- NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_assertion wasDerivedFrom befree-2016 NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_provenance.
- NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_assertion wasGeneratedBy ECO_0000203 NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_provenance.
- befree-2016 importedOn "2016-02-19" NP1155993.RAO-kIHheFEzEPV-DwdyY3pVF2n20C5jI_4P7pbCeoNlo130_provenance.