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- source_evidence_literature type ECO_0000212 NP1404987.RAYLTctmeXYR4termenLtQ80ZX3zH-50iVIA2MrXt-SEo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1404987.RAYLTctmeXYR4termenLtQ80ZX3zH-50iVIA2MrXt-SEo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1404987.RAYLTctmeXYR4termenLtQ80ZX3zH-50iVIA2MrXt-SEo130_provenance.
- NP1404987.RAYLTctmeXYR4termenLtQ80ZX3zH-50iVIA2MrXt-SEo130_assertion description "[Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1404987.RAYLTctmeXYR4termenLtQ80ZX3zH-50iVIA2MrXt-SEo130_provenance.
- NP1404987.RAYLTctmeXYR4termenLtQ80ZX3zH-50iVIA2MrXt-SEo130_assertion evidence source_evidence_literature NP1404987.RAYLTctmeXYR4termenLtQ80ZX3zH-50iVIA2MrXt-SEo130_provenance.
- NP1404987.RAYLTctmeXYR4termenLtQ80ZX3zH-50iVIA2MrXt-SEo130_assertion SIO_000772 9758621 NP1404987.RAYLTctmeXYR4termenLtQ80ZX3zH-50iVIA2MrXt-SEo130_provenance.
- NP1404987.RAYLTctmeXYR4termenLtQ80ZX3zH-50iVIA2MrXt-SEo130_assertion wasDerivedFrom befree-2016 NP1404987.RAYLTctmeXYR4termenLtQ80ZX3zH-50iVIA2MrXt-SEo130_provenance.
- NP1404987.RAYLTctmeXYR4termenLtQ80ZX3zH-50iVIA2MrXt-SEo130_assertion wasGeneratedBy ECO_0000203 NP1404987.RAYLTctmeXYR4termenLtQ80ZX3zH-50iVIA2MrXt-SEo130_provenance.
- befree-2016 importedOn "2016-02-19" NP1404987.RAYLTctmeXYR4termenLtQ80ZX3zH-50iVIA2MrXt-SEo130_provenance.