Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP759612.RAjZ_V8g0YBa3A-0QeUIz7gvysCne53qrf5d7wx_wpaRA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP759612.RAjZ_V8g0YBa3A-0QeUIz7gvysCne53qrf5d7wx_wpaRA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP759612.RAjZ_V8g0YBa3A-0QeUIz7gvysCne53qrf5d7wx_wpaRA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP759612.RAjZ_V8g0YBa3A-0QeUIz7gvysCne53qrf5d7wx_wpaRA130_provenance.
- NP759612.RAjZ_V8g0YBa3A-0QeUIz7gvysCne53qrf5d7wx_wpaRA130_assertion description "[Corroborating previous studies, analysis of the single sporadic patient with calcified aortic valve in the presence of ascending aortic aneurysm revealed a novel heterozygous missense mutation in NOTCH1 resulting in a nonsynonymous amino acid substitution (p.T1090S, c.C3269G) of an evolutionarily conserved residue.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP759612.RAjZ_V8g0YBa3A-0QeUIz7gvysCne53qrf5d7wx_wpaRA130_provenance.
- NP759612.RAjZ_V8g0YBa3A-0QeUIz7gvysCne53qrf5d7wx_wpaRA130_assertion evidence source_evidence_literature NP759612.RAjZ_V8g0YBa3A-0QeUIz7gvysCne53qrf5d7wx_wpaRA130_provenance.
- NP759612.RAjZ_V8g0YBa3A-0QeUIz7gvysCne53qrf5d7wx_wpaRA130_assertion SIO_000772 23102684 NP759612.RAjZ_V8g0YBa3A-0QeUIz7gvysCne53qrf5d7wx_wpaRA130_provenance.
- NP759612.RAjZ_V8g0YBa3A-0QeUIz7gvysCne53qrf5d7wx_wpaRA130_assertion wasDerivedFrom befree-20140225 NP759612.RAjZ_V8g0YBa3A-0QeUIz7gvysCne53qrf5d7wx_wpaRA130_provenance.
- NP759612.RAjZ_V8g0YBa3A-0QeUIz7gvysCne53qrf5d7wx_wpaRA130_assertion wasGeneratedBy ECO_0000203 NP759612.RAjZ_V8g0YBa3A-0QeUIz7gvysCne53qrf5d7wx_wpaRA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP759612.RAjZ_V8g0YBa3A-0QeUIz7gvysCne53qrf5d7wx_wpaRA130_provenance.