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- source_evidence_literature type ECO_0000212 NP548219.RADmOWCwJ-H9smKZVlmdGpPLltaKsz_BcgKevFDgxvUqo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP548219.RADmOWCwJ-H9smKZVlmdGpPLltaKsz_BcgKevFDgxvUqo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP548219.RADmOWCwJ-H9smKZVlmdGpPLltaKsz_BcgKevFDgxvUqo130_provenance.
- NP548219.RADmOWCwJ-H9smKZVlmdGpPLltaKsz_BcgKevFDgxvUqo130_assertion description "[Affected individuals have mutations in the NHS (Nance-Horan syndrome) gene typically resulting in premature truncation of the protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP548219.RADmOWCwJ-H9smKZVlmdGpPLltaKsz_BcgKevFDgxvUqo130_provenance.
- NP548219.RADmOWCwJ-H9smKZVlmdGpPLltaKsz_BcgKevFDgxvUqo130_assertion evidence source_evidence_literature NP548219.RADmOWCwJ-H9smKZVlmdGpPLltaKsz_BcgKevFDgxvUqo130_provenance.
- NP548219.RADmOWCwJ-H9smKZVlmdGpPLltaKsz_BcgKevFDgxvUqo130_assertion SIO_000772 16675532 NP548219.RADmOWCwJ-H9smKZVlmdGpPLltaKsz_BcgKevFDgxvUqo130_provenance.
- NP548219.RADmOWCwJ-H9smKZVlmdGpPLltaKsz_BcgKevFDgxvUqo130_assertion wasDerivedFrom befree-2016 NP548219.RADmOWCwJ-H9smKZVlmdGpPLltaKsz_BcgKevFDgxvUqo130_provenance.
- NP548219.RADmOWCwJ-H9smKZVlmdGpPLltaKsz_BcgKevFDgxvUqo130_assertion wasGeneratedBy ECO_0000203 NP548219.RADmOWCwJ-H9smKZVlmdGpPLltaKsz_BcgKevFDgxvUqo130_provenance.
- befree-2016 importedOn "2016-02-19" NP548219.RADmOWCwJ-H9smKZVlmdGpPLltaKsz_BcgKevFDgxvUqo130_provenance.