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- source_evidence_literature type ECO_0000212 NP381852.RA6lPo_64dSt02Mbw47qCuROesyQNyFeTNMIwkvg25jYM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP381852.RA6lPo_64dSt02Mbw47qCuROesyQNyFeTNMIwkvg25jYM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP381852.RA6lPo_64dSt02Mbw47qCuROesyQNyFeTNMIwkvg25jYM130_provenance.
- NP381852.RA6lPo_64dSt02Mbw47qCuROesyQNyFeTNMIwkvg25jYM130_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." NP381852.RA6lPo_64dSt02Mbw47qCuROesyQNyFeTNMIwkvg25jYM130_provenance.
- NP381852.RA6lPo_64dSt02Mbw47qCuROesyQNyFeTNMIwkvg25jYM130_assertion evidence source_evidence_literature NP381852.RA6lPo_64dSt02Mbw47qCuROesyQNyFeTNMIwkvg25jYM130_provenance.
- NP381852.RA6lPo_64dSt02Mbw47qCuROesyQNyFeTNMIwkvg25jYM130_assertion SIO_000772 11955452 NP381852.RA6lPo_64dSt02Mbw47qCuROesyQNyFeTNMIwkvg25jYM130_provenance.
- NP381852.RA6lPo_64dSt02Mbw47qCuROesyQNyFeTNMIwkvg25jYM130_assertion wasDerivedFrom befree-20150227 NP381852.RA6lPo_64dSt02Mbw47qCuROesyQNyFeTNMIwkvg25jYM130_provenance.
- NP381852.RA6lPo_64dSt02Mbw47qCuROesyQNyFeTNMIwkvg25jYM130_assertion wasGeneratedBy ECO_0000203 NP381852.RA6lPo_64dSt02Mbw47qCuROesyQNyFeTNMIwkvg25jYM130_provenance.
- befree-20150227 importedOn "2015-02-27" NP381852.RA6lPo_64dSt02Mbw47qCuROesyQNyFeTNMIwkvg25jYM130_provenance.