Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_provenance.
- NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_assertion wasGeneratedBy ECO_0000203 NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_provenance.
- NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_assertion wasDerivedFrom befree-20140225 NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_provenance.
- NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_assertion SIO_000772 17720887 NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_provenance.
- NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_assertion evidence source_evidence_literature NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_provenance.
- NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_assertion description "[Most of the JAGGED1 mutations generate premature termination codons, and as a result, two pathogenic mechanisms causing AGS have been proposed: haploinsufficiency or a dominant-negative effect of putative truncated proteins.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_provenance.
- befree-20140225 importedOn "2014-02-25" NP224911.RA8IW29sT7Kd8oM7dUsKAP2NI3g5z6qbrbzvssxnZZSC4130_provenance.