Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP15553.RADYtsPgY6LqZN4V8z7mt-evlHQRc2T75-eGbAGBo3nms130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP15553.RADYtsPgY6LqZN4V8z7mt-evlHQRc2T75-eGbAGBo3nms130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP15553.RADYtsPgY6LqZN4V8z7mt-evlHQRc2T75-eGbAGBo3nms130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP15553.RADYtsPgY6LqZN4V8z7mt-evlHQRc2T75-eGbAGBo3nms130_provenance.
- NP15553.RADYtsPgY6LqZN4V8z7mt-evlHQRc2T75-eGbAGBo3nms130_assertion description "[Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP15553.RADYtsPgY6LqZN4V8z7mt-evlHQRc2T75-eGbAGBo3nms130_provenance.
- NP15553.RADYtsPgY6LqZN4V8z7mt-evlHQRc2T75-eGbAGBo3nms130_assertion evidence source_evidence_curated NP15553.RADYtsPgY6LqZN4V8z7mt-evlHQRc2T75-eGbAGBo3nms130_provenance.
- NP15553.RADYtsPgY6LqZN4V8z7mt-evlHQRc2T75-eGbAGBo3nms130_assertion SIO_000772 22772368 NP15553.RADYtsPgY6LqZN4V8z7mt-evlHQRc2T75-eGbAGBo3nms130_provenance.
- NP15553.RADYtsPgY6LqZN4V8z7mt-evlHQRc2T75-eGbAGBo3nms130_assertion wasDerivedFrom ctd_human-20130708 NP15553.RADYtsPgY6LqZN4V8z7mt-evlHQRc2T75-eGbAGBo3nms130_provenance.
- NP15553.RADYtsPgY6LqZN4V8z7mt-evlHQRc2T75-eGbAGBo3nms130_assertion wasGeneratedBy ECO_0000218 NP15553.RADYtsPgY6LqZN4V8z7mt-evlHQRc2T75-eGbAGBo3nms130_provenance.
- ctd_human-20130708 importedOn "2013-07-24" NP15553.RADYtsPgY6LqZN4V8z7mt-evlHQRc2T75-eGbAGBo3nms130_provenance.