Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP814019.RA2mv-dQsOttGeiHz7fX33-Ws4rCFsoQLvRzgzMDsOAv0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP814019.RA2mv-dQsOttGeiHz7fX33-Ws4rCFsoQLvRzgzMDsOAv0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP814019.RA2mv-dQsOttGeiHz7fX33-Ws4rCFsoQLvRzgzMDsOAv0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP814019.RA2mv-dQsOttGeiHz7fX33-Ws4rCFsoQLvRzgzMDsOAv0130_provenance.
- NP814019.RA2mv-dQsOttGeiHz7fX33-Ws4rCFsoQLvRzgzMDsOAv0130_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." NP814019.RA2mv-dQsOttGeiHz7fX33-Ws4rCFsoQLvRzgzMDsOAv0130_provenance.
- NP814019.RA2mv-dQsOttGeiHz7fX33-Ws4rCFsoQLvRzgzMDsOAv0130_assertion evidence source_evidence_literature NP814019.RA2mv-dQsOttGeiHz7fX33-Ws4rCFsoQLvRzgzMDsOAv0130_provenance.
- NP814019.RA2mv-dQsOttGeiHz7fX33-Ws4rCFsoQLvRzgzMDsOAv0130_assertion SIO_000772 19409520 NP814019.RA2mv-dQsOttGeiHz7fX33-Ws4rCFsoQLvRzgzMDsOAv0130_provenance.
- NP814019.RA2mv-dQsOttGeiHz7fX33-Ws4rCFsoQLvRzgzMDsOAv0130_assertion wasDerivedFrom befree-20150227 NP814019.RA2mv-dQsOttGeiHz7fX33-Ws4rCFsoQLvRzgzMDsOAv0130_provenance.
- NP814019.RA2mv-dQsOttGeiHz7fX33-Ws4rCFsoQLvRzgzMDsOAv0130_assertion wasGeneratedBy ECO_0000203 NP814019.RA2mv-dQsOttGeiHz7fX33-Ws4rCFsoQLvRzgzMDsOAv0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP814019.RA2mv-dQsOttGeiHz7fX33-Ws4rCFsoQLvRzgzMDsOAv0130_provenance.