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- source_evidence_literature type ECO_0000212 NP585490.RA8QalxHiU-Oj3oUiqYaFNWdfl02vvuon68Sqo3PMy220130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP585490.RA8QalxHiU-Oj3oUiqYaFNWdfl02vvuon68Sqo3PMy220130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP585490.RA8QalxHiU-Oj3oUiqYaFNWdfl02vvuon68Sqo3PMy220130_provenance.
- NP585490.RA8QalxHiU-Oj3oUiqYaFNWdfl02vvuon68Sqo3PMy220130_assertion description "[Mutations in myosin heavy chain (MYH11), a smooth muscle cell-specific contractile protein, have been identified in familial TAAD associated with patent ductus arteriosus (PDA) linked to 16p12.2-12.13.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP585490.RA8QalxHiU-Oj3oUiqYaFNWdfl02vvuon68Sqo3PMy220130_provenance.
- NP585490.RA8QalxHiU-Oj3oUiqYaFNWdfl02vvuon68Sqo3PMy220130_assertion evidence source_evidence_literature NP585490.RA8QalxHiU-Oj3oUiqYaFNWdfl02vvuon68Sqo3PMy220130_provenance.
- NP585490.RA8QalxHiU-Oj3oUiqYaFNWdfl02vvuon68Sqo3PMy220130_assertion SIO_000772 17182941 NP585490.RA8QalxHiU-Oj3oUiqYaFNWdfl02vvuon68Sqo3PMy220130_provenance.
- NP585490.RA8QalxHiU-Oj3oUiqYaFNWdfl02vvuon68Sqo3PMy220130_assertion wasDerivedFrom befree-2016 NP585490.RA8QalxHiU-Oj3oUiqYaFNWdfl02vvuon68Sqo3PMy220130_provenance.
- NP585490.RA8QalxHiU-Oj3oUiqYaFNWdfl02vvuon68Sqo3PMy220130_assertion wasGeneratedBy ECO_0000203 NP585490.RA8QalxHiU-Oj3oUiqYaFNWdfl02vvuon68Sqo3PMy220130_provenance.
- befree-2016 importedOn "2016-02-19" NP585490.RA8QalxHiU-Oj3oUiqYaFNWdfl02vvuon68Sqo3PMy220130_provenance.