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- source_evidence_literature type ECO_0000212 NP428130.RAc_iOC2CXmxbwC6Z-pIZQC9zhrqgNZfBCRFkVQj63_68130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP428130.RAc_iOC2CXmxbwC6Z-pIZQC9zhrqgNZfBCRFkVQj63_68130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP428130.RAc_iOC2CXmxbwC6Z-pIZQC9zhrqgNZfBCRFkVQj63_68130_provenance.
- NP428130.RAc_iOC2CXmxbwC6Z-pIZQC9zhrqgNZfBCRFkVQj63_68130_assertion description "[Subtle differences in the effects of these different mutations on the many activities of TFIIH and on its stability determine the clinical outcomes, which can be XP, TTD, XP with CS, XP with TTD or COFS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP428130.RAc_iOC2CXmxbwC6Z-pIZQC9zhrqgNZfBCRFkVQj63_68130_provenance.
- NP428130.RAc_iOC2CXmxbwC6Z-pIZQC9zhrqgNZfBCRFkVQj63_68130_assertion evidence source_evidence_literature NP428130.RAc_iOC2CXmxbwC6Z-pIZQC9zhrqgNZfBCRFkVQj63_68130_provenance.
- NP428130.RAc_iOC2CXmxbwC6Z-pIZQC9zhrqgNZfBCRFkVQj63_68130_assertion SIO_000772 14726016 NP428130.RAc_iOC2CXmxbwC6Z-pIZQC9zhrqgNZfBCRFkVQj63_68130_provenance.
- NP428130.RAc_iOC2CXmxbwC6Z-pIZQC9zhrqgNZfBCRFkVQj63_68130_assertion wasDerivedFrom befree-2016 NP428130.RAc_iOC2CXmxbwC6Z-pIZQC9zhrqgNZfBCRFkVQj63_68130_provenance.
- NP428130.RAc_iOC2CXmxbwC6Z-pIZQC9zhrqgNZfBCRFkVQj63_68130_assertion wasGeneratedBy ECO_0000203 NP428130.RAc_iOC2CXmxbwC6Z-pIZQC9zhrqgNZfBCRFkVQj63_68130_provenance.
- befree-2016 importedOn "2016-02-19" NP428130.RAc_iOC2CXmxbwC6Z-pIZQC9zhrqgNZfBCRFkVQj63_68130_provenance.