Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP351884.RA0GvaiaKAEoaxGi2e3TmEk3_e_1Dq2HbOxKo3Lt5IXsg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP351884.RA0GvaiaKAEoaxGi2e3TmEk3_e_1Dq2HbOxKo3Lt5IXsg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP351884.RA0GvaiaKAEoaxGi2e3TmEk3_e_1Dq2HbOxKo3Lt5IXsg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP351884.RA0GvaiaKAEoaxGi2e3TmEk3_e_1Dq2HbOxKo3Lt5IXsg130_provenance.
- NP351884.RA0GvaiaKAEoaxGi2e3TmEk3_e_1Dq2HbOxKo3Lt5IXsg130_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." NP351884.RA0GvaiaKAEoaxGi2e3TmEk3_e_1Dq2HbOxKo3Lt5IXsg130_provenance.
- NP351884.RA0GvaiaKAEoaxGi2e3TmEk3_e_1Dq2HbOxKo3Lt5IXsg130_assertion evidence source_evidence_literature NP351884.RA0GvaiaKAEoaxGi2e3TmEk3_e_1Dq2HbOxKo3Lt5IXsg130_provenance.
- NP351884.RA0GvaiaKAEoaxGi2e3TmEk3_e_1Dq2HbOxKo3Lt5IXsg130_assertion SIO_000772 11955452 NP351884.RA0GvaiaKAEoaxGi2e3TmEk3_e_1Dq2HbOxKo3Lt5IXsg130_provenance.
- NP351884.RA0GvaiaKAEoaxGi2e3TmEk3_e_1Dq2HbOxKo3Lt5IXsg130_assertion wasDerivedFrom befree-2016 NP351884.RA0GvaiaKAEoaxGi2e3TmEk3_e_1Dq2HbOxKo3Lt5IXsg130_provenance.
- NP351884.RA0GvaiaKAEoaxGi2e3TmEk3_e_1Dq2HbOxKo3Lt5IXsg130_assertion wasGeneratedBy ECO_0000203 NP351884.RA0GvaiaKAEoaxGi2e3TmEk3_e_1Dq2HbOxKo3Lt5IXsg130_provenance.
- befree-2016 importedOn "2016-02-19" NP351884.RA0GvaiaKAEoaxGi2e3TmEk3_e_1Dq2HbOxKo3Lt5IXsg130_provenance.