Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_assertion> ?p ?o ?g. }
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- NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_assertion type Assertion NP907434.RAq_rRXsYAjx8XMgFxuVGo_xYA9tcov_IcLFFr0WALGtA130_head.
- 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.