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- source_evidence_literature type ECO_0000212 NP419889.RAIMS-Ddh7EEceV3CvnMgC05k_uk080RdfU-tvrP1t_68130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP419889.RAIMS-Ddh7EEceV3CvnMgC05k_uk080RdfU-tvrP1t_68130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP419889.RAIMS-Ddh7EEceV3CvnMgC05k_uk080RdfU-tvrP1t_68130_provenance.
- NP419889.RAIMS-Ddh7EEceV3CvnMgC05k_uk080RdfU-tvrP1t_68130_assertion description "[Twelve distinct mutations in the NKX2.5 coding region were identified in 18 of 608 patients (3%), including 9 of 201 (4%) with tetralogy of Fallot, 3 of 71 (4%) with a secundum ASD, one each with truncus arteriosus, double-outlet right ventricle, L-transposition of the great arteries, interrupted aortic arch, hypoplastic left heart syndrome, and aortic coarctation, but in no patients with D-transposition of the great arteries (n = 86) or valvar aortic stenosis (n = 21).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP419889.RAIMS-Ddh7EEceV3CvnMgC05k_uk080RdfU-tvrP1t_68130_provenance.
- NP419889.RAIMS-Ddh7EEceV3CvnMgC05k_uk080RdfU-tvrP1t_68130_assertion evidence source_evidence_literature NP419889.RAIMS-Ddh7EEceV3CvnMgC05k_uk080RdfU-tvrP1t_68130_provenance.
- NP419889.RAIMS-Ddh7EEceV3CvnMgC05k_uk080RdfU-tvrP1t_68130_assertion SIO_000772 14607454 NP419889.RAIMS-Ddh7EEceV3CvnMgC05k_uk080RdfU-tvrP1t_68130_provenance.
- NP419889.RAIMS-Ddh7EEceV3CvnMgC05k_uk080RdfU-tvrP1t_68130_assertion wasDerivedFrom befree-2016 NP419889.RAIMS-Ddh7EEceV3CvnMgC05k_uk080RdfU-tvrP1t_68130_provenance.
- NP419889.RAIMS-Ddh7EEceV3CvnMgC05k_uk080RdfU-tvrP1t_68130_assertion wasGeneratedBy ECO_0000203 NP419889.RAIMS-Ddh7EEceV3CvnMgC05k_uk080RdfU-tvrP1t_68130_provenance.
- befree-2016 importedOn "2016-02-19" NP419889.RAIMS-Ddh7EEceV3CvnMgC05k_uk080RdfU-tvrP1t_68130_provenance.