Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1057468.RAIn-CoJ4LsQ_LK4VG6WxUXvzgQb8OrZ4TmGs6cPMdygs130_assertion> ?p ?o ?g. }
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- NP1057468.RAIn-CoJ4LsQ_LK4VG6WxUXvzgQb8OrZ4TmGs6cPMdygs130_assertion type Assertion NP1057468.RAIn-CoJ4LsQ_LK4VG6WxUXvzgQb8OrZ4TmGs6cPMdygs130_head.
- NP1057468.RAIn-CoJ4LsQ_LK4VG6WxUXvzgQb8OrZ4TmGs6cPMdygs130_assertion wasGeneratedBy ECO_0000203 NP1057468.RAIn-CoJ4LsQ_LK4VG6WxUXvzgQb8OrZ4TmGs6cPMdygs130_provenance.
- NP1057468.RAIn-CoJ4LsQ_LK4VG6WxUXvzgQb8OrZ4TmGs6cPMdygs130_assertion wasDerivedFrom befree-2016 NP1057468.RAIn-CoJ4LsQ_LK4VG6WxUXvzgQb8OrZ4TmGs6cPMdygs130_provenance.
- NP1057468.RAIn-CoJ4LsQ_LK4VG6WxUXvzgQb8OrZ4TmGs6cPMdygs130_assertion SIO_000772 23456818 NP1057468.RAIn-CoJ4LsQ_LK4VG6WxUXvzgQb8OrZ4TmGs6cPMdygs130_provenance.
- NP1057468.RAIn-CoJ4LsQ_LK4VG6WxUXvzgQb8OrZ4TmGs6cPMdygs130_assertion evidence source_evidence_literature NP1057468.RAIn-CoJ4LsQ_LK4VG6WxUXvzgQb8OrZ4TmGs6cPMdygs130_provenance.
- NP1057468.RAIn-CoJ4LsQ_LK4VG6WxUXvzgQb8OrZ4TmGs6cPMdygs130_assertion description "[Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1057468.RAIn-CoJ4LsQ_LK4VG6WxUXvzgQb8OrZ4TmGs6cPMdygs130_provenance.