Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP790177.RA30VZK426fKm_jQ_G89b9xUThGrB9p71Rhqex81ofq3s130_assertion> ?p ?o ?g. }
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- NP790177.RA30VZK426fKm_jQ_G89b9xUThGrB9p71Rhqex81ofq3s130_assertion type Assertion NP790177.RA30VZK426fKm_jQ_G89b9xUThGrB9p71Rhqex81ofq3s130_head.
- NP790177.RA30VZK426fKm_jQ_G89b9xUThGrB9p71Rhqex81ofq3s130_assertion description "[Mutations in the DNA-dependent ATPase/helicase subunits of TFIIH, XPB and XPD, are associated with three inherited syndromes as follows: xeroderma pigmentosum with or without Cockayne syndrome and trichothiodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP790177.RA30VZK426fKm_jQ_G89b9xUThGrB9p71Rhqex81ofq3s130_provenance.
- NP790177.RA30VZK426fKm_jQ_G89b9xUThGrB9p71Rhqex81ofq3s130_assertion evidence source_evidence_literature NP790177.RA30VZK426fKm_jQ_G89b9xUThGrB9p71Rhqex81ofq3s130_provenance.
- NP790177.RA30VZK426fKm_jQ_G89b9xUThGrB9p71Rhqex81ofq3s130_assertion SIO_000772 10660593 NP790177.RA30VZK426fKm_jQ_G89b9xUThGrB9p71Rhqex81ofq3s130_provenance.
- NP790177.RA30VZK426fKm_jQ_G89b9xUThGrB9p71Rhqex81ofq3s130_assertion wasDerivedFrom befree-20140225 NP790177.RA30VZK426fKm_jQ_G89b9xUThGrB9p71Rhqex81ofq3s130_provenance.
- NP790177.RA30VZK426fKm_jQ_G89b9xUThGrB9p71Rhqex81ofq3s130_assertion wasGeneratedBy ECO_0000203 NP790177.RA30VZK426fKm_jQ_G89b9xUThGrB9p71Rhqex81ofq3s130_provenance.