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- source_evidence_literature type ECO_0000212 NP334057.RATSbr8MXrwHEBQTulFDf4TI7ZFctG5hPY1V_dlwGp8jI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP334057.RATSbr8MXrwHEBQTulFDf4TI7ZFctG5hPY1V_dlwGp8jI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP334057.RATSbr8MXrwHEBQTulFDf4TI7ZFctG5hPY1V_dlwGp8jI130_provenance.
- NP334057.RATSbr8MXrwHEBQTulFDf4TI7ZFctG5hPY1V_dlwGp8jI130_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." NP334057.RATSbr8MXrwHEBQTulFDf4TI7ZFctG5hPY1V_dlwGp8jI130_provenance.
- NP334057.RATSbr8MXrwHEBQTulFDf4TI7ZFctG5hPY1V_dlwGp8jI130_assertion evidence source_evidence_literature NP334057.RATSbr8MXrwHEBQTulFDf4TI7ZFctG5hPY1V_dlwGp8jI130_provenance.
- NP334057.RATSbr8MXrwHEBQTulFDf4TI7ZFctG5hPY1V_dlwGp8jI130_assertion SIO_000772 14607454 NP334057.RATSbr8MXrwHEBQTulFDf4TI7ZFctG5hPY1V_dlwGp8jI130_provenance.
- NP334057.RATSbr8MXrwHEBQTulFDf4TI7ZFctG5hPY1V_dlwGp8jI130_assertion wasDerivedFrom befree-20150227 NP334057.RATSbr8MXrwHEBQTulFDf4TI7ZFctG5hPY1V_dlwGp8jI130_provenance.
- NP334057.RATSbr8MXrwHEBQTulFDf4TI7ZFctG5hPY1V_dlwGp8jI130_assertion wasGeneratedBy ECO_0000203 NP334057.RATSbr8MXrwHEBQTulFDf4TI7ZFctG5hPY1V_dlwGp8jI130_provenance.
- befree-20150227 importedOn "2015-02-27" NP334057.RATSbr8MXrwHEBQTulFDf4TI7ZFctG5hPY1V_dlwGp8jI130_provenance.