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- source_evidence_literature type ECO_0000212 NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_provenance.
- NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_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." NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_provenance.
- NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_assertion evidence source_evidence_literature NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_provenance.
- NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_assertion SIO_000772 14726016 NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_provenance.
- NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_assertion wasDerivedFrom befree-2016 NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_provenance.
- NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_assertion wasGeneratedBy ECO_0000203 NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_provenance.
- befree-2016 importedOn "2016-02-19" NP428127.RAKdxcYnStanuxHRWYj2FylE7BsCTxRuNeStFrmL5eHb0130_provenance.