Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1232234.RACCwXuvOCVzrOp7EnSdzALZLgg63-tZUrSy6m202632E130_assertion> ?p ?o ?g. }
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- NP1232234.RACCwXuvOCVzrOp7EnSdzALZLgg63-tZUrSy6m202632E130_assertion type Assertion NP1232234.RACCwXuvOCVzrOp7EnSdzALZLgg63-tZUrSy6m202632E130_head.
- NP1232234.RACCwXuvOCVzrOp7EnSdzALZLgg63-tZUrSy6m202632E130_assertion description "[Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1232234.RACCwXuvOCVzrOp7EnSdzALZLgg63-tZUrSy6m202632E130_provenance.
- NP1232234.RACCwXuvOCVzrOp7EnSdzALZLgg63-tZUrSy6m202632E130_assertion evidence source_evidence_literature NP1232234.RACCwXuvOCVzrOp7EnSdzALZLgg63-tZUrSy6m202632E130_provenance.
- NP1232234.RACCwXuvOCVzrOp7EnSdzALZLgg63-tZUrSy6m202632E130_assertion SIO_000772 25342064 NP1232234.RACCwXuvOCVzrOp7EnSdzALZLgg63-tZUrSy6m202632E130_provenance.
- NP1232234.RACCwXuvOCVzrOp7EnSdzALZLgg63-tZUrSy6m202632E130_assertion wasDerivedFrom befree-2016 NP1232234.RACCwXuvOCVzrOp7EnSdzALZLgg63-tZUrSy6m202632E130_provenance.
- NP1232234.RACCwXuvOCVzrOp7EnSdzALZLgg63-tZUrSy6m202632E130_assertion wasGeneratedBy ECO_0000203 NP1232234.RACCwXuvOCVzrOp7EnSdzALZLgg63-tZUrSy6m202632E130_provenance.