Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP381818.RApOBQ_Z_zSqJQD1OwZ3D5tKCmCIewPuwabhxi3dv24n4130_assertion> ?p ?o ?g. }
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- NP381818.RApOBQ_Z_zSqJQD1OwZ3D5tKCmCIewPuwabhxi3dv24n4130_assertion type Assertion NP381818.RApOBQ_Z_zSqJQD1OwZ3D5tKCmCIewPuwabhxi3dv24n4130_head.
- NP381818.RApOBQ_Z_zSqJQD1OwZ3D5tKCmCIewPuwabhxi3dv24n4130_assertion description "[Mutations in three of the subunits, XPB, XPD and TTDA, lead to three distinct genetic disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD) predisposing patients not only to cancer and ageing but also to developmental and neurological defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP381818.RApOBQ_Z_zSqJQD1OwZ3D5tKCmCIewPuwabhxi3dv24n4130_provenance.
- NP381818.RApOBQ_Z_zSqJQD1OwZ3D5tKCmCIewPuwabhxi3dv24n4130_assertion evidence source_evidence_literature NP381818.RApOBQ_Z_zSqJQD1OwZ3D5tKCmCIewPuwabhxi3dv24n4130_provenance.
- NP381818.RApOBQ_Z_zSqJQD1OwZ3D5tKCmCIewPuwabhxi3dv24n4130_assertion SIO_000772 21592869 NP381818.RApOBQ_Z_zSqJQD1OwZ3D5tKCmCIewPuwabhxi3dv24n4130_provenance.
- NP381818.RApOBQ_Z_zSqJQD1OwZ3D5tKCmCIewPuwabhxi3dv24n4130_assertion wasDerivedFrom befree-20150227 NP381818.RApOBQ_Z_zSqJQD1OwZ3D5tKCmCIewPuwabhxi3dv24n4130_provenance.
- NP381818.RApOBQ_Z_zSqJQD1OwZ3D5tKCmCIewPuwabhxi3dv24n4130_assertion wasGeneratedBy ECO_0000203 NP381818.RApOBQ_Z_zSqJQD1OwZ3D5tKCmCIewPuwabhxi3dv24n4130_provenance.