Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP813362.RAy9kQslJxkkkv5EscEqNunrQTTXQSIweJMVYBHC6P-N0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP813362.RAy9kQslJxkkkv5EscEqNunrQTTXQSIweJMVYBHC6P-N0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP813362.RAy9kQslJxkkkv5EscEqNunrQTTXQSIweJMVYBHC6P-N0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP813362.RAy9kQslJxkkkv5EscEqNunrQTTXQSIweJMVYBHC6P-N0130_provenance.
- NP813362.RAy9kQslJxkkkv5EscEqNunrQTTXQSIweJMVYBHC6P-N0130_assertion description "[Congenital heart defects within the spectrum of complete or partial (including cleft mitral valve) atrioventricular canal defect were diagnosed in 8/101 (8%) patients, including seven with a PTPN11 gene mutation, and one single subject with a RAF1 gene mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP813362.RAy9kQslJxkkkv5EscEqNunrQTTXQSIweJMVYBHC6P-N0130_provenance.
- NP813362.RAy9kQslJxkkkv5EscEqNunrQTTXQSIweJMVYBHC6P-N0130_assertion evidence source_evidence_literature NP813362.RAy9kQslJxkkkv5EscEqNunrQTTXQSIweJMVYBHC6P-N0130_provenance.
- NP813362.RAy9kQslJxkkkv5EscEqNunrQTTXQSIweJMVYBHC6P-N0130_assertion SIO_000772 22781091 NP813362.RAy9kQslJxkkkv5EscEqNunrQTTXQSIweJMVYBHC6P-N0130_provenance.
- NP813362.RAy9kQslJxkkkv5EscEqNunrQTTXQSIweJMVYBHC6P-N0130_assertion wasDerivedFrom befree-20140225 NP813362.RAy9kQslJxkkkv5EscEqNunrQTTXQSIweJMVYBHC6P-N0130_provenance.
- NP813362.RAy9kQslJxkkkv5EscEqNunrQTTXQSIweJMVYBHC6P-N0130_assertion wasGeneratedBy ECO_0000203 NP813362.RAy9kQslJxkkkv5EscEqNunrQTTXQSIweJMVYBHC6P-N0130_provenance.
- befree-20140225 importedOn "2014-02-25" NP813362.RAy9kQslJxkkkv5EscEqNunrQTTXQSIweJMVYBHC6P-N0130_provenance.