Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP382421.RASVZZscCJ4TsyX9-s6P5NAvunVABOFkl9WcDncMBcJQI130_assertion> ?p ?o ?g. }
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- NP382421.RASVZZscCJ4TsyX9-s6P5NAvunVABOFkl9WcDncMBcJQI130_assertion type Assertion NP382421.RASVZZscCJ4TsyX9-s6P5NAvunVABOFkl9WcDncMBcJQI130_head.
- NP382421.RASVZZscCJ4TsyX9-s6P5NAvunVABOFkl9WcDncMBcJQI130_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." NP382421.RASVZZscCJ4TsyX9-s6P5NAvunVABOFkl9WcDncMBcJQI130_provenance.
- NP382421.RASVZZscCJ4TsyX9-s6P5NAvunVABOFkl9WcDncMBcJQI130_assertion evidence source_evidence_literature NP382421.RASVZZscCJ4TsyX9-s6P5NAvunVABOFkl9WcDncMBcJQI130_provenance.
- NP382421.RASVZZscCJ4TsyX9-s6P5NAvunVABOFkl9WcDncMBcJQI130_assertion SIO_000772 9651581 NP382421.RASVZZscCJ4TsyX9-s6P5NAvunVABOFkl9WcDncMBcJQI130_provenance.
- NP382421.RASVZZscCJ4TsyX9-s6P5NAvunVABOFkl9WcDncMBcJQI130_assertion wasDerivedFrom befree-20150227 NP382421.RASVZZscCJ4TsyX9-s6P5NAvunVABOFkl9WcDncMBcJQI130_provenance.
- NP382421.RASVZZscCJ4TsyX9-s6P5NAvunVABOFkl9WcDncMBcJQI130_assertion wasGeneratedBy ECO_0000203 NP382421.RASVZZscCJ4TsyX9-s6P5NAvunVABOFkl9WcDncMBcJQI130_provenance.