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- source_evidence_literature type ECO_0000212 NP381810.RAReQf0IY8sMlDurI7w9P0-t-CGwr0M4EU5rItl66fq5o130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP381810.RAReQf0IY8sMlDurI7w9P0-t-CGwr0M4EU5rItl66fq5o130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP381810.RAReQf0IY8sMlDurI7w9P0-t-CGwr0M4EU5rItl66fq5o130_provenance.
- NP381810.RAReQf0IY8sMlDurI7w9P0-t-CGwr0M4EU5rItl66fq5o130_assertion description "[Missense mutations within the helicase regions of these genes are associated with DNA repair deficiencies and XPD; mutations elsewhere in these genes are correlated with symptoms of XP and Cockayne syndrome and trichothiodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP381810.RAReQf0IY8sMlDurI7w9P0-t-CGwr0M4EU5rItl66fq5o130_provenance.
- NP381810.RAReQf0IY8sMlDurI7w9P0-t-CGwr0M4EU5rItl66fq5o130_assertion evidence source_evidence_literature NP381810.RAReQf0IY8sMlDurI7w9P0-t-CGwr0M4EU5rItl66fq5o130_provenance.
- NP381810.RAReQf0IY8sMlDurI7w9P0-t-CGwr0M4EU5rItl66fq5o130_assertion SIO_000772 10699759 NP381810.RAReQf0IY8sMlDurI7w9P0-t-CGwr0M4EU5rItl66fq5o130_provenance.
- NP381810.RAReQf0IY8sMlDurI7w9P0-t-CGwr0M4EU5rItl66fq5o130_assertion wasDerivedFrom befree-20150227 NP381810.RAReQf0IY8sMlDurI7w9P0-t-CGwr0M4EU5rItl66fq5o130_provenance.
- NP381810.RAReQf0IY8sMlDurI7w9P0-t-CGwr0M4EU5rItl66fq5o130_assertion wasGeneratedBy ECO_0000203 NP381810.RAReQf0IY8sMlDurI7w9P0-t-CGwr0M4EU5rItl66fq5o130_provenance.
- befree-20150227 importedOn "2015-02-27" NP381810.RAReQf0IY8sMlDurI7w9P0-t-CGwr0M4EU5rItl66fq5o130_provenance.