Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP736043.RA36_2p_IFoo7C9wd3BdL5IcuQZrqIEBulZwUPynCtPYU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP736043.RA36_2p_IFoo7C9wd3BdL5IcuQZrqIEBulZwUPynCtPYU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP736043.RA36_2p_IFoo7C9wd3BdL5IcuQZrqIEBulZwUPynCtPYU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP736043.RA36_2p_IFoo7C9wd3BdL5IcuQZrqIEBulZwUPynCtPYU130_provenance.
- NP736043.RA36_2p_IFoo7C9wd3BdL5IcuQZrqIEBulZwUPynCtPYU130_assertion description "[Hypomorphic mutations in NBN (previously known as NBS1) and MRE11A give rise to the autosomal-recessive diseases Nijmegen breakage syndrome (NBS) and ataxia-telangiectasia-like disorder (ATLD), respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP736043.RA36_2p_IFoo7C9wd3BdL5IcuQZrqIEBulZwUPynCtPYU130_provenance.
- NP736043.RA36_2p_IFoo7C9wd3BdL5IcuQZrqIEBulZwUPynCtPYU130_assertion evidence source_evidence_literature NP736043.RA36_2p_IFoo7C9wd3BdL5IcuQZrqIEBulZwUPynCtPYU130_provenance.
- NP736043.RA36_2p_IFoo7C9wd3BdL5IcuQZrqIEBulZwUPynCtPYU130_assertion SIO_000772 19409520 NP736043.RA36_2p_IFoo7C9wd3BdL5IcuQZrqIEBulZwUPynCtPYU130_provenance.
- NP736043.RA36_2p_IFoo7C9wd3BdL5IcuQZrqIEBulZwUPynCtPYU130_assertion wasDerivedFrom befree-2016 NP736043.RA36_2p_IFoo7C9wd3BdL5IcuQZrqIEBulZwUPynCtPYU130_provenance.
- NP736043.RA36_2p_IFoo7C9wd3BdL5IcuQZrqIEBulZwUPynCtPYU130_assertion wasGeneratedBy ECO_0000203 NP736043.RA36_2p_IFoo7C9wd3BdL5IcuQZrqIEBulZwUPynCtPYU130_provenance.
- befree-2016 importedOn "2016-02-19" NP736043.RA36_2p_IFoo7C9wd3BdL5IcuQZrqIEBulZwUPynCtPYU130_provenance.