Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP981969.RADsirB21RQUK3dkzcTGTA5aAZVhYf5WsAP5z5_qmb3kQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP981969.RADsirB21RQUK3dkzcTGTA5aAZVhYf5WsAP5z5_qmb3kQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP981969.RADsirB21RQUK3dkzcTGTA5aAZVhYf5WsAP5z5_qmb3kQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP981969.RADsirB21RQUK3dkzcTGTA5aAZVhYf5WsAP5z5_qmb3kQ130_provenance.
- NP981969.RADsirB21RQUK3dkzcTGTA5aAZVhYf5WsAP5z5_qmb3kQ130_assertion description "[In about a decade, mutations in 8 different genes (IPF1, EIF2AK3, GK, FOXP3, KCNJ11, ABCC8, PTF1A and GLIS3) have been discovered in patients with the permanent form of the disease, and 3 genetic abnormalities (defects in the paternally imprinted chromosomal region 6q24 and 'mild' activating mutations in KCNJ11 or ABCC8) have been detected in subjects with transient neonatal diabetes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP981969.RADsirB21RQUK3dkzcTGTA5aAZVhYf5WsAP5z5_qmb3kQ130_provenance.
- NP981969.RADsirB21RQUK3dkzcTGTA5aAZVhYf5WsAP5z5_qmb3kQ130_assertion evidence source_evidence_literature NP981969.RADsirB21RQUK3dkzcTGTA5aAZVhYf5WsAP5z5_qmb3kQ130_provenance.
- NP981969.RADsirB21RQUK3dkzcTGTA5aAZVhYf5WsAP5z5_qmb3kQ130_assertion SIO_000772 17986829 NP981969.RADsirB21RQUK3dkzcTGTA5aAZVhYf5WsAP5z5_qmb3kQ130_provenance.
- NP981969.RADsirB21RQUK3dkzcTGTA5aAZVhYf5WsAP5z5_qmb3kQ130_assertion wasDerivedFrom befree-20150227 NP981969.RADsirB21RQUK3dkzcTGTA5aAZVhYf5WsAP5z5_qmb3kQ130_provenance.
- NP981969.RADsirB21RQUK3dkzcTGTA5aAZVhYf5WsAP5z5_qmb3kQ130_assertion wasGeneratedBy ECO_0000203 NP981969.RADsirB21RQUK3dkzcTGTA5aAZVhYf5WsAP5z5_qmb3kQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP981969.RADsirB21RQUK3dkzcTGTA5aAZVhYf5WsAP5z5_qmb3kQ130_provenance.