Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP247351.RA7B5-gz6rRu4Qgb1AQO9kKQz4YMp9n4ZQEstFq0vXhkg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP247351.RA7B5-gz6rRu4Qgb1AQO9kKQz4YMp9n4ZQEstFq0vXhkg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP247351.RA7B5-gz6rRu4Qgb1AQO9kKQz4YMp9n4ZQEstFq0vXhkg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP247351.RA7B5-gz6rRu4Qgb1AQO9kKQz4YMp9n4ZQEstFq0vXhkg130_provenance.
- NP247351.RA7B5-gz6rRu4Qgb1AQO9kKQz4YMp9n4ZQEstFq0vXhkg130_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." NP247351.RA7B5-gz6rRu4Qgb1AQO9kKQz4YMp9n4ZQEstFq0vXhkg130_provenance.
- NP247351.RA7B5-gz6rRu4Qgb1AQO9kKQz4YMp9n4ZQEstFq0vXhkg130_assertion evidence source_evidence_literature NP247351.RA7B5-gz6rRu4Qgb1AQO9kKQz4YMp9n4ZQEstFq0vXhkg130_provenance.
- NP247351.RA7B5-gz6rRu4Qgb1AQO9kKQz4YMp9n4ZQEstFq0vXhkg130_assertion SIO_000772 11955452 NP247351.RA7B5-gz6rRu4Qgb1AQO9kKQz4YMp9n4ZQEstFq0vXhkg130_provenance.
- NP247351.RA7B5-gz6rRu4Qgb1AQO9kKQz4YMp9n4ZQEstFq0vXhkg130_assertion wasDerivedFrom befree-20140225 NP247351.RA7B5-gz6rRu4Qgb1AQO9kKQz4YMp9n4ZQEstFq0vXhkg130_provenance.
- NP247351.RA7B5-gz6rRu4Qgb1AQO9kKQz4YMp9n4ZQEstFq0vXhkg130_assertion wasGeneratedBy ECO_0000203 NP247351.RA7B5-gz6rRu4Qgb1AQO9kKQz4YMp9n4ZQEstFq0vXhkg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP247351.RA7B5-gz6rRu4Qgb1AQO9kKQz4YMp9n4ZQEstFq0vXhkg130_provenance.