Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP996446.RABYP-EPCRFn8LQXeF2uKXwNVeX8jhlYfo6CI-sxNs2S8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP996446.RABYP-EPCRFn8LQXeF2uKXwNVeX8jhlYfo6CI-sxNs2S8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP996446.RABYP-EPCRFn8LQXeF2uKXwNVeX8jhlYfo6CI-sxNs2S8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP996446.RABYP-EPCRFn8LQXeF2uKXwNVeX8jhlYfo6CI-sxNs2S8130_provenance.
- NP996446.RABYP-EPCRFn8LQXeF2uKXwNVeX8jhlYfo6CI-sxNs2S8130_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." NP996446.RABYP-EPCRFn8LQXeF2uKXwNVeX8jhlYfo6CI-sxNs2S8130_provenance.
- NP996446.RABYP-EPCRFn8LQXeF2uKXwNVeX8jhlYfo6CI-sxNs2S8130_assertion evidence source_evidence_literature NP996446.RABYP-EPCRFn8LQXeF2uKXwNVeX8jhlYfo6CI-sxNs2S8130_provenance.
- NP996446.RABYP-EPCRFn8LQXeF2uKXwNVeX8jhlYfo6CI-sxNs2S8130_assertion SIO_000772 22781091 NP996446.RABYP-EPCRFn8LQXeF2uKXwNVeX8jhlYfo6CI-sxNs2S8130_provenance.
- NP996446.RABYP-EPCRFn8LQXeF2uKXwNVeX8jhlYfo6CI-sxNs2S8130_assertion wasDerivedFrom befree-2016 NP996446.RABYP-EPCRFn8LQXeF2uKXwNVeX8jhlYfo6CI-sxNs2S8130_provenance.
- NP996446.RABYP-EPCRFn8LQXeF2uKXwNVeX8jhlYfo6CI-sxNs2S8130_assertion wasGeneratedBy ECO_0000203 NP996446.RABYP-EPCRFn8LQXeF2uKXwNVeX8jhlYfo6CI-sxNs2S8130_provenance.
- befree-2016 importedOn "2016-02-19" NP996446.RABYP-EPCRFn8LQXeF2uKXwNVeX8jhlYfo6CI-sxNs2S8130_provenance.