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- source_evidence_literature type ECO_0000212 NP992078.RAX-iAP0FunP17NezOuiY6T9h3gj5RofyotN7LK7pMSC4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP992078.RAX-iAP0FunP17NezOuiY6T9h3gj5RofyotN7LK7pMSC4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP992078.RAX-iAP0FunP17NezOuiY6T9h3gj5RofyotN7LK7pMSC4130_provenance.
- NP992078.RAX-iAP0FunP17NezOuiY6T9h3gj5RofyotN7LK7pMSC4130_assertion description "[Mutations in three of the subunits, XPB, XPD and TTDA, lead to three distinct genetic disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD) predisposing patients not only to cancer and ageing but also to developmental and neurological defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP992078.RAX-iAP0FunP17NezOuiY6T9h3gj5RofyotN7LK7pMSC4130_provenance.
- NP992078.RAX-iAP0FunP17NezOuiY6T9h3gj5RofyotN7LK7pMSC4130_assertion evidence source_evidence_literature NP992078.RAX-iAP0FunP17NezOuiY6T9h3gj5RofyotN7LK7pMSC4130_provenance.
- NP992078.RAX-iAP0FunP17NezOuiY6T9h3gj5RofyotN7LK7pMSC4130_assertion SIO_000772 21592869 NP992078.RAX-iAP0FunP17NezOuiY6T9h3gj5RofyotN7LK7pMSC4130_provenance.
- NP992078.RAX-iAP0FunP17NezOuiY6T9h3gj5RofyotN7LK7pMSC4130_assertion wasDerivedFrom befree-20150227 NP992078.RAX-iAP0FunP17NezOuiY6T9h3gj5RofyotN7LK7pMSC4130_provenance.
- NP992078.RAX-iAP0FunP17NezOuiY6T9h3gj5RofyotN7LK7pMSC4130_assertion wasGeneratedBy ECO_0000203 NP992078.RAX-iAP0FunP17NezOuiY6T9h3gj5RofyotN7LK7pMSC4130_provenance.
- befree-20150227 importedOn "2015-02-27" NP992078.RAX-iAP0FunP17NezOuiY6T9h3gj5RofyotN7LK7pMSC4130_provenance.