Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP895130.RAmFGJA3Fh9WGLrsUtXfI8NYcaBiJ-TgxUcW0tnmAtLzo130_assertion> ?p ?o ?g. }
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- NP895130.RAmFGJA3Fh9WGLrsUtXfI8NYcaBiJ-TgxUcW0tnmAtLzo130_assertion type Assertion NP895130.RAmFGJA3Fh9WGLrsUtXfI8NYcaBiJ-TgxUcW0tnmAtLzo130_head.
- NP895130.RAmFGJA3Fh9WGLrsUtXfI8NYcaBiJ-TgxUcW0tnmAtLzo130_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." NP895130.RAmFGJA3Fh9WGLrsUtXfI8NYcaBiJ-TgxUcW0tnmAtLzo130_provenance.
- NP895130.RAmFGJA3Fh9WGLrsUtXfI8NYcaBiJ-TgxUcW0tnmAtLzo130_assertion evidence source_evidence_literature NP895130.RAmFGJA3Fh9WGLrsUtXfI8NYcaBiJ-TgxUcW0tnmAtLzo130_provenance.
- NP895130.RAmFGJA3Fh9WGLrsUtXfI8NYcaBiJ-TgxUcW0tnmAtLzo130_assertion SIO_000772 21592869 NP895130.RAmFGJA3Fh9WGLrsUtXfI8NYcaBiJ-TgxUcW0tnmAtLzo130_provenance.
- NP895130.RAmFGJA3Fh9WGLrsUtXfI8NYcaBiJ-TgxUcW0tnmAtLzo130_assertion wasDerivedFrom befree-2016 NP895130.RAmFGJA3Fh9WGLrsUtXfI8NYcaBiJ-TgxUcW0tnmAtLzo130_provenance.
- NP895130.RAmFGJA3Fh9WGLrsUtXfI8NYcaBiJ-TgxUcW0tnmAtLzo130_assertion wasGeneratedBy ECO_0000203 NP895130.RAmFGJA3Fh9WGLrsUtXfI8NYcaBiJ-TgxUcW0tnmAtLzo130_provenance.