Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP442493.RAjEG-NYLrYuKLaY_pIxDnueXeajZxRsXT3S-L4wCNjK0130_assertion> ?p ?o ?g. }
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- NP442493.RAjEG-NYLrYuKLaY_pIxDnueXeajZxRsXT3S-L4wCNjK0130_assertion type Assertion NP442493.RAjEG-NYLrYuKLaY_pIxDnueXeajZxRsXT3S-L4wCNjK0130_head.
- NP442493.RAjEG-NYLrYuKLaY_pIxDnueXeajZxRsXT3S-L4wCNjK0130_assertion description "[The rare diseases ataxia-telangiectasia (AT), caused by mutations in the ATM gene, and Nijmegen breakage syndrome (NBS), with mutations in the p95/nbs1 gene, share a variety of phenotypic abnormalities such as chromosomal instability, radiation sensitivity and defects in cell-cycle checkpoints in response to ionizing radiation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP442493.RAjEG-NYLrYuKLaY_pIxDnueXeajZxRsXT3S-L4wCNjK0130_provenance.
- NP442493.RAjEG-NYLrYuKLaY_pIxDnueXeajZxRsXT3S-L4wCNjK0130_assertion evidence source_evidence_literature NP442493.RAjEG-NYLrYuKLaY_pIxDnueXeajZxRsXT3S-L4wCNjK0130_provenance.
- NP442493.RAjEG-NYLrYuKLaY_pIxDnueXeajZxRsXT3S-L4wCNjK0130_assertion SIO_000772 10766245 NP442493.RAjEG-NYLrYuKLaY_pIxDnueXeajZxRsXT3S-L4wCNjK0130_provenance.
- NP442493.RAjEG-NYLrYuKLaY_pIxDnueXeajZxRsXT3S-L4wCNjK0130_assertion wasDerivedFrom befree-20140225 NP442493.RAjEG-NYLrYuKLaY_pIxDnueXeajZxRsXT3S-L4wCNjK0130_provenance.
- NP442493.RAjEG-NYLrYuKLaY_pIxDnueXeajZxRsXT3S-L4wCNjK0130_assertion wasGeneratedBy ECO_0000203 NP442493.RAjEG-NYLrYuKLaY_pIxDnueXeajZxRsXT3S-L4wCNjK0130_provenance.