Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_provenance.
- NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_assertion description "[We report here on a unique and de novo mutation in ACTA2, R179H, that causes a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_provenance.
- NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_assertion evidence source_evidence_literature NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_provenance.
- NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_assertion SIO_000772 20734336 NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_provenance.
- NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_assertion wasDerivedFrom befree-20140225 NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_provenance.
- NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_assertion wasGeneratedBy ECO_0000203 NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_provenance.
- befree-20140225 importedOn "2014-02-25" NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_provenance.