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- source_evidence_literature type ECO_0000212 NP351888.RAptj-9PUZYoTZeIg0v98L5XRtCnu2vi5tpKWkkjnzGhU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP351888.RAptj-9PUZYoTZeIg0v98L5XRtCnu2vi5tpKWkkjnzGhU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP351888.RAptj-9PUZYoTZeIg0v98L5XRtCnu2vi5tpKWkkjnzGhU130_provenance.
- NP351888.RAptj-9PUZYoTZeIg0v98L5XRtCnu2vi5tpKWkkjnzGhU130_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." NP351888.RAptj-9PUZYoTZeIg0v98L5XRtCnu2vi5tpKWkkjnzGhU130_provenance.
- NP351888.RAptj-9PUZYoTZeIg0v98L5XRtCnu2vi5tpKWkkjnzGhU130_assertion evidence source_evidence_literature NP351888.RAptj-9PUZYoTZeIg0v98L5XRtCnu2vi5tpKWkkjnzGhU130_provenance.
- NP351888.RAptj-9PUZYoTZeIg0v98L5XRtCnu2vi5tpKWkkjnzGhU130_assertion SIO_000772 11955452 NP351888.RAptj-9PUZYoTZeIg0v98L5XRtCnu2vi5tpKWkkjnzGhU130_provenance.
- NP351888.RAptj-9PUZYoTZeIg0v98L5XRtCnu2vi5tpKWkkjnzGhU130_assertion wasDerivedFrom befree-2016 NP351888.RAptj-9PUZYoTZeIg0v98L5XRtCnu2vi5tpKWkkjnzGhU130_provenance.
- NP351888.RAptj-9PUZYoTZeIg0v98L5XRtCnu2vi5tpKWkkjnzGhU130_assertion wasGeneratedBy ECO_0000203 NP351888.RAptj-9PUZYoTZeIg0v98L5XRtCnu2vi5tpKWkkjnzGhU130_provenance.
- befree-2016 importedOn "2016-02-19" NP351888.RAptj-9PUZYoTZeIg0v98L5XRtCnu2vi5tpKWkkjnzGhU130_provenance.