Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP547002.RAFqndb35OLNuzDW0zVtxdxuSCOLDXgPTqvq8Zp5x2xJY130_assertion> ?p ?o ?g. }
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- NP547002.RAFqndb35OLNuzDW0zVtxdxuSCOLDXgPTqvq8Zp5x2xJY130_assertion type Assertion NP547002.RAFqndb35OLNuzDW0zVtxdxuSCOLDXgPTqvq8Zp5x2xJY130_head.
- NP547002.RAFqndb35OLNuzDW0zVtxdxuSCOLDXgPTqvq8Zp5x2xJY130_assertion description "[Inherited mutations in the XPD subunit of the general transcription/repair factor TFIIH yield the rare genetic disorder Xeroderma pigmentosum (XP), the phenotypes of which cannot be explained solely on the basis of a DNA repair defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547002.RAFqndb35OLNuzDW0zVtxdxuSCOLDXgPTqvq8Zp5x2xJY130_provenance.
- NP547002.RAFqndb35OLNuzDW0zVtxdxuSCOLDXgPTqvq8Zp5x2xJY130_assertion evidence source_evidence_literature NP547002.RAFqndb35OLNuzDW0zVtxdxuSCOLDXgPTqvq8Zp5x2xJY130_provenance.
- NP547002.RAFqndb35OLNuzDW0zVtxdxuSCOLDXgPTqvq8Zp5x2xJY130_assertion SIO_000772 11955452 NP547002.RAFqndb35OLNuzDW0zVtxdxuSCOLDXgPTqvq8Zp5x2xJY130_provenance.
- NP547002.RAFqndb35OLNuzDW0zVtxdxuSCOLDXgPTqvq8Zp5x2xJY130_assertion wasDerivedFrom befree-20140225 NP547002.RAFqndb35OLNuzDW0zVtxdxuSCOLDXgPTqvq8Zp5x2xJY130_provenance.
- NP547002.RAFqndb35OLNuzDW0zVtxdxuSCOLDXgPTqvq8Zp5x2xJY130_assertion wasGeneratedBy ECO_0000203 NP547002.RAFqndb35OLNuzDW0zVtxdxuSCOLDXgPTqvq8Zp5x2xJY130_provenance.