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- source_evidence_literature type ECO_0000212 NP567147.RAtCTBM31KmkADKgvg9FJtPSe7hTB2hnr7LBzpFuhhXWs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP567147.RAtCTBM31KmkADKgvg9FJtPSe7hTB2hnr7LBzpFuhhXWs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP567147.RAtCTBM31KmkADKgvg9FJtPSe7hTB2hnr7LBzpFuhhXWs130_provenance.
- NP567147.RAtCTBM31KmkADKgvg9FJtPSe7hTB2hnr7LBzpFuhhXWs130_assertion description "[Defects in the xeroderma pigmentosum type B (XPB) gene (ERCC3), a DNA helicase involved in nucleotide excision repair (NER) and an essential subunit of the basal transcription factor, TFIIH, have been described in only three families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP567147.RAtCTBM31KmkADKgvg9FJtPSe7hTB2hnr7LBzpFuhhXWs130_provenance.
- NP567147.RAtCTBM31KmkADKgvg9FJtPSe7hTB2hnr7LBzpFuhhXWs130_assertion evidence source_evidence_literature NP567147.RAtCTBM31KmkADKgvg9FJtPSe7hTB2hnr7LBzpFuhhXWs130_provenance.
- NP567147.RAtCTBM31KmkADKgvg9FJtPSe7hTB2hnr7LBzpFuhhXWs130_assertion SIO_000772 16947863 NP567147.RAtCTBM31KmkADKgvg9FJtPSe7hTB2hnr7LBzpFuhhXWs130_provenance.
- NP567147.RAtCTBM31KmkADKgvg9FJtPSe7hTB2hnr7LBzpFuhhXWs130_assertion wasDerivedFrom befree-2016 NP567147.RAtCTBM31KmkADKgvg9FJtPSe7hTB2hnr7LBzpFuhhXWs130_provenance.
- NP567147.RAtCTBM31KmkADKgvg9FJtPSe7hTB2hnr7LBzpFuhhXWs130_assertion wasGeneratedBy ECO_0000203 NP567147.RAtCTBM31KmkADKgvg9FJtPSe7hTB2hnr7LBzpFuhhXWs130_provenance.
- befree-2016 importedOn "2016-02-19" NP567147.RAtCTBM31KmkADKgvg9FJtPSe7hTB2hnr7LBzpFuhhXWs130_provenance.