Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP450498.RAPNQaNFI-aQJW-x6H1TW4vDLCHzWOYRXv_fDYTMN_G84130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP450498.RAPNQaNFI-aQJW-x6H1TW4vDLCHzWOYRXv_fDYTMN_G84130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP450498.RAPNQaNFI-aQJW-x6H1TW4vDLCHzWOYRXv_fDYTMN_G84130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP450498.RAPNQaNFI-aQJW-x6H1TW4vDLCHzWOYRXv_fDYTMN_G84130_provenance.
- NP450498.RAPNQaNFI-aQJW-x6H1TW4vDLCHzWOYRXv_fDYTMN_G84130_assertion description "[Overall, our data confirm that SPG7 point mutations are rare causes of HSP, in both sporadic and familial forms, while underlying the puzzling and intriguing aspects of histological and biochemical consequences of paraplegin loss.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP450498.RAPNQaNFI-aQJW-x6H1TW4vDLCHzWOYRXv_fDYTMN_G84130_provenance.
- NP450498.RAPNQaNFI-aQJW-x6H1TW4vDLCHzWOYRXv_fDYTMN_G84130_assertion evidence source_evidence_literature NP450498.RAPNQaNFI-aQJW-x6H1TW4vDLCHzWOYRXv_fDYTMN_G84130_provenance.
- NP450498.RAPNQaNFI-aQJW-x6H1TW4vDLCHzWOYRXv_fDYTMN_G84130_assertion SIO_000772 18200586 NP450498.RAPNQaNFI-aQJW-x6H1TW4vDLCHzWOYRXv_fDYTMN_G84130_provenance.
- NP450498.RAPNQaNFI-aQJW-x6H1TW4vDLCHzWOYRXv_fDYTMN_G84130_assertion wasDerivedFrom befree-20140225 NP450498.RAPNQaNFI-aQJW-x6H1TW4vDLCHzWOYRXv_fDYTMN_G84130_provenance.
- NP450498.RAPNQaNFI-aQJW-x6H1TW4vDLCHzWOYRXv_fDYTMN_G84130_assertion wasGeneratedBy ECO_0000203 NP450498.RAPNQaNFI-aQJW-x6H1TW4vDLCHzWOYRXv_fDYTMN_G84130_provenance.
- befree-20140225 importedOn "2014-02-25" NP450498.RAPNQaNFI-aQJW-x6H1TW4vDLCHzWOYRXv_fDYTMN_G84130_provenance.