Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP300474.RAHpsVPnzh1mODxECwzWZvWpvFvDrcTt2bKjp3oc3-RWA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP300474.RAHpsVPnzh1mODxECwzWZvWpvFvDrcTt2bKjp3oc3-RWA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP300474.RAHpsVPnzh1mODxECwzWZvWpvFvDrcTt2bKjp3oc3-RWA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP300474.RAHpsVPnzh1mODxECwzWZvWpvFvDrcTt2bKjp3oc3-RWA130_provenance.
- NP300474.RAHpsVPnzh1mODxECwzWZvWpvFvDrcTt2bKjp3oc3-RWA130_assertion description "[Our data establish recessive mutations in CDH3 as the molecular cause of hypotrichosis with juvenile macular dystrophy and expand our understanding of the pathophysiology of this intriguing disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP300474.RAHpsVPnzh1mODxECwzWZvWpvFvDrcTt2bKjp3oc3-RWA130_provenance.
- NP300474.RAHpsVPnzh1mODxECwzWZvWpvFvDrcTt2bKjp3oc3-RWA130_assertion evidence source_evidence_literature NP300474.RAHpsVPnzh1mODxECwzWZvWpvFvDrcTt2bKjp3oc3-RWA130_provenance.
- NP300474.RAHpsVPnzh1mODxECwzWZvWpvFvDrcTt2bKjp3oc3-RWA130_assertion SIO_000772 12445216 NP300474.RAHpsVPnzh1mODxECwzWZvWpvFvDrcTt2bKjp3oc3-RWA130_provenance.
- NP300474.RAHpsVPnzh1mODxECwzWZvWpvFvDrcTt2bKjp3oc3-RWA130_assertion wasDerivedFrom befree-20150227 NP300474.RAHpsVPnzh1mODxECwzWZvWpvFvDrcTt2bKjp3oc3-RWA130_provenance.
- NP300474.RAHpsVPnzh1mODxECwzWZvWpvFvDrcTt2bKjp3oc3-RWA130_assertion wasGeneratedBy ECO_0000203 NP300474.RAHpsVPnzh1mODxECwzWZvWpvFvDrcTt2bKjp3oc3-RWA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP300474.RAHpsVPnzh1mODxECwzWZvWpvFvDrcTt2bKjp3oc3-RWA130_provenance.