Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_assertion> ?p ?o ?g. }
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- NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_assertion type Assertion NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_head.
- NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_assertion description "[This targeted analysis involving NOTCH1 exons previously implicated in familial and sporadic bicuspid aortic valve demonstrates overrepresentation of NOTCH1 missense variants among patients with bicuspid aortic valves and thoracic aortic aneurysms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_provenance.
- NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_assertion evidence source_evidence_literature NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_provenance.
- NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_assertion SIO_000772 17662764 NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_provenance.
- NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_assertion wasDerivedFrom befree-20140225 NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_provenance.
- NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_assertion wasGeneratedBy ECO_0000203 NP833425.RA416B4AKo9UaR7rfbZkWzwI8JqOCLbXBab79uA5edLbY130_provenance.