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- source_evidence_literature type ECO_0000212 NP227701.RAvmIjAk9iuHTcsssI0gUbKG9CfMOHzUybKeROjBNc8js130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP227701.RAvmIjAk9iuHTcsssI0gUbKG9CfMOHzUybKeROjBNc8js130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP227701.RAvmIjAk9iuHTcsssI0gUbKG9CfMOHzUybKeROjBNc8js130_provenance.
- NP227701.RAvmIjAk9iuHTcsssI0gUbKG9CfMOHzUybKeROjBNc8js130_assertion description "[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." NP227701.RAvmIjAk9iuHTcsssI0gUbKG9CfMOHzUybKeROjBNc8js130_provenance.
- NP227701.RAvmIjAk9iuHTcsssI0gUbKG9CfMOHzUybKeROjBNc8js130_assertion evidence source_evidence_literature NP227701.RAvmIjAk9iuHTcsssI0gUbKG9CfMOHzUybKeROjBNc8js130_provenance.
- NP227701.RAvmIjAk9iuHTcsssI0gUbKG9CfMOHzUybKeROjBNc8js130_assertion SIO_000772 17662764 NP227701.RAvmIjAk9iuHTcsssI0gUbKG9CfMOHzUybKeROjBNc8js130_provenance.
- NP227701.RAvmIjAk9iuHTcsssI0gUbKG9CfMOHzUybKeROjBNc8js130_assertion wasDerivedFrom lhgdn-20090331 NP227701.RAvmIjAk9iuHTcsssI0gUbKG9CfMOHzUybKeROjBNc8js130_provenance.
- NP227701.RAvmIjAk9iuHTcsssI0gUbKG9CfMOHzUybKeROjBNc8js130_assertion wasGeneratedBy ECO_0000203 NP227701.RAvmIjAk9iuHTcsssI0gUbKG9CfMOHzUybKeROjBNc8js130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP227701.RAvmIjAk9iuHTcsssI0gUbKG9CfMOHzUybKeROjBNc8js130_provenance.