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- source_evidence_literature type ECO_0000212 NP1398675.RAlhzHhCAYXpkUTV8Nmm847El0qvBZdtxfnK5_-cbbeKE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1398675.RAlhzHhCAYXpkUTV8Nmm847El0qvBZdtxfnK5_-cbbeKE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1398675.RAlhzHhCAYXpkUTV8Nmm847El0qvBZdtxfnK5_-cbbeKE130_provenance.
- NP1398675.RAlhzHhCAYXpkUTV8Nmm847El0qvBZdtxfnK5_-cbbeKE130_assertion description "[The sun-sensitive form of the severe neurodevelopmental, brittle hair disorder trichothiodystrophy (TTD) is caused by point mutations in the essential XPB and XPD helicase subunits of the dual functional DNA repair/basal transcription factor TFIIH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1398675.RAlhzHhCAYXpkUTV8Nmm847El0qvBZdtxfnK5_-cbbeKE130_provenance.
- NP1398675.RAlhzHhCAYXpkUTV8Nmm847El0qvBZdtxfnK5_-cbbeKE130_assertion evidence source_evidence_literature NP1398675.RAlhzHhCAYXpkUTV8Nmm847El0qvBZdtxfnK5_-cbbeKE130_provenance.
- NP1398675.RAlhzHhCAYXpkUTV8Nmm847El0qvBZdtxfnK5_-cbbeKE130_assertion SIO_000772 9651581 NP1398675.RAlhzHhCAYXpkUTV8Nmm847El0qvBZdtxfnK5_-cbbeKE130_provenance.
- NP1398675.RAlhzHhCAYXpkUTV8Nmm847El0qvBZdtxfnK5_-cbbeKE130_assertion wasDerivedFrom befree-2016 NP1398675.RAlhzHhCAYXpkUTV8Nmm847El0qvBZdtxfnK5_-cbbeKE130_provenance.
- NP1398675.RAlhzHhCAYXpkUTV8Nmm847El0qvBZdtxfnK5_-cbbeKE130_assertion wasGeneratedBy ECO_0000203 NP1398675.RAlhzHhCAYXpkUTV8Nmm847El0qvBZdtxfnK5_-cbbeKE130_provenance.
- befree-2016 importedOn "2016-02-19" NP1398675.RAlhzHhCAYXpkUTV8Nmm847El0qvBZdtxfnK5_-cbbeKE130_provenance.