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- source_evidence_literature type ECO_0000212 NP351890.RAY8I7T1dib9RhamwyeH-yMCBvg2lJGN6c6RxUw9OKoHQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP351890.RAY8I7T1dib9RhamwyeH-yMCBvg2lJGN6c6RxUw9OKoHQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP351890.RAY8I7T1dib9RhamwyeH-yMCBvg2lJGN6c6RxUw9OKoHQ130_provenance.
- NP351890.RAY8I7T1dib9RhamwyeH-yMCBvg2lJGN6c6RxUw9OKoHQ130_assertion description "[Inherited mutations in the XPD subunit of the general transcription/repair factor TFIIH yield the rare genetic disorder Xeroderma pigmentosum (XP), the phenotypes of which cannot be explained solely on the basis of a DNA repair defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP351890.RAY8I7T1dib9RhamwyeH-yMCBvg2lJGN6c6RxUw9OKoHQ130_provenance.
- NP351890.RAY8I7T1dib9RhamwyeH-yMCBvg2lJGN6c6RxUw9OKoHQ130_assertion evidence source_evidence_literature NP351890.RAY8I7T1dib9RhamwyeH-yMCBvg2lJGN6c6RxUw9OKoHQ130_provenance.
- NP351890.RAY8I7T1dib9RhamwyeH-yMCBvg2lJGN6c6RxUw9OKoHQ130_assertion SIO_000772 11955452 NP351890.RAY8I7T1dib9RhamwyeH-yMCBvg2lJGN6c6RxUw9OKoHQ130_provenance.
- NP351890.RAY8I7T1dib9RhamwyeH-yMCBvg2lJGN6c6RxUw9OKoHQ130_assertion wasDerivedFrom befree-2016 NP351890.RAY8I7T1dib9RhamwyeH-yMCBvg2lJGN6c6RxUw9OKoHQ130_provenance.
- NP351890.RAY8I7T1dib9RhamwyeH-yMCBvg2lJGN6c6RxUw9OKoHQ130_assertion wasGeneratedBy ECO_0000203 NP351890.RAY8I7T1dib9RhamwyeH-yMCBvg2lJGN6c6RxUw9OKoHQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP351890.RAY8I7T1dib9RhamwyeH-yMCBvg2lJGN6c6RxUw9OKoHQ130_provenance.