Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP679762.RA0yyfP2nTQax3cykhg6X-Lp7n-NKqP9Q2AIZjRMMITAA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP679762.RA0yyfP2nTQax3cykhg6X-Lp7n-NKqP9Q2AIZjRMMITAA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP679762.RA0yyfP2nTQax3cykhg6X-Lp7n-NKqP9Q2AIZjRMMITAA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP679762.RA0yyfP2nTQax3cykhg6X-Lp7n-NKqP9Q2AIZjRMMITAA130_provenance.
- NP679762.RA0yyfP2nTQax3cykhg6X-Lp7n-NKqP9Q2AIZjRMMITAA130_assertion description "[Nijmegen breakage syndrome (NBS) with NBS1 germ-line mutations is a rare autosomal recessive disease with clinical features that include microcephaly, mental and growth retardation, immunodeficiency, increased radiosensitivity, and predisposition to cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP679762.RA0yyfP2nTQax3cykhg6X-Lp7n-NKqP9Q2AIZjRMMITAA130_provenance.
- NP679762.RA0yyfP2nTQax3cykhg6X-Lp7n-NKqP9Q2AIZjRMMITAA130_assertion evidence source_evidence_literature NP679762.RA0yyfP2nTQax3cykhg6X-Lp7n-NKqP9Q2AIZjRMMITAA130_provenance.
- NP679762.RA0yyfP2nTQax3cykhg6X-Lp7n-NKqP9Q2AIZjRMMITAA130_assertion SIO_000772 18593981 NP679762.RA0yyfP2nTQax3cykhg6X-Lp7n-NKqP9Q2AIZjRMMITAA130_provenance.
- NP679762.RA0yyfP2nTQax3cykhg6X-Lp7n-NKqP9Q2AIZjRMMITAA130_assertion wasDerivedFrom befree-2016 NP679762.RA0yyfP2nTQax3cykhg6X-Lp7n-NKqP9Q2AIZjRMMITAA130_provenance.
- NP679762.RA0yyfP2nTQax3cykhg6X-Lp7n-NKqP9Q2AIZjRMMITAA130_assertion wasGeneratedBy ECO_0000203 NP679762.RA0yyfP2nTQax3cykhg6X-Lp7n-NKqP9Q2AIZjRMMITAA130_provenance.
- befree-2016 importedOn "2016-02-19" NP679762.RA0yyfP2nTQax3cykhg6X-Lp7n-NKqP9Q2AIZjRMMITAA130_provenance.