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- source_evidence_literature type ECO_0000212 NP852168.RA73SWpZvQWH76k3MqcfHVrsOSpT88fZwDfIBNGCBC6HM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP852168.RA73SWpZvQWH76k3MqcfHVrsOSpT88fZwDfIBNGCBC6HM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP852168.RA73SWpZvQWH76k3MqcfHVrsOSpT88fZwDfIBNGCBC6HM130_provenance.
- NP852168.RA73SWpZvQWH76k3MqcfHVrsOSpT88fZwDfIBNGCBC6HM130_assertion description "[The identification of a second mutation in SNAP29 in the present study definitely establishes a causal relationship between defective function of SNAP29 and the pleiotropic manifestations of CEDNIK syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP852168.RA73SWpZvQWH76k3MqcfHVrsOSpT88fZwDfIBNGCBC6HM130_provenance.
- NP852168.RA73SWpZvQWH76k3MqcfHVrsOSpT88fZwDfIBNGCBC6HM130_assertion evidence source_evidence_literature NP852168.RA73SWpZvQWH76k3MqcfHVrsOSpT88fZwDfIBNGCBC6HM130_provenance.
- NP852168.RA73SWpZvQWH76k3MqcfHVrsOSpT88fZwDfIBNGCBC6HM130_assertion SIO_000772 21073448 NP852168.RA73SWpZvQWH76k3MqcfHVrsOSpT88fZwDfIBNGCBC6HM130_provenance.
- NP852168.RA73SWpZvQWH76k3MqcfHVrsOSpT88fZwDfIBNGCBC6HM130_assertion wasDerivedFrom befree-2016 NP852168.RA73SWpZvQWH76k3MqcfHVrsOSpT88fZwDfIBNGCBC6HM130_provenance.
- NP852168.RA73SWpZvQWH76k3MqcfHVrsOSpT88fZwDfIBNGCBC6HM130_assertion wasGeneratedBy ECO_0000203 NP852168.RA73SWpZvQWH76k3MqcfHVrsOSpT88fZwDfIBNGCBC6HM130_provenance.
- befree-2016 importedOn "2016-02-19" NP852168.RA73SWpZvQWH76k3MqcfHVrsOSpT88fZwDfIBNGCBC6HM130_provenance.