Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP857214.RAAc8xQxOsKfAKz3DaQv72tVp9BykQriiYUfYcBIbMkPE130_assertion> ?p ?o ?g. }
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- NP857214.RAAc8xQxOsKfAKz3DaQv72tVp9BykQriiYUfYcBIbMkPE130_assertion type Assertion NP857214.RAAc8xQxOsKfAKz3DaQv72tVp9BykQriiYUfYcBIbMkPE130_head.
- NP857214.RAAc8xQxOsKfAKz3DaQv72tVp9BykQriiYUfYcBIbMkPE130_assertion description "[Our findings demonstrate a novel genomic disorder characterised by deletion of BMP2 with variable cognitive deficits and dysmorphic features and show that individuals bearing microdeletions in 20p12.3 often present with WPW syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP857214.RAAc8xQxOsKfAKz3DaQv72tVp9BykQriiYUfYcBIbMkPE130_provenance.
- NP857214.RAAc8xQxOsKfAKz3DaQv72tVp9BykQriiYUfYcBIbMkPE130_assertion evidence source_evidence_literature NP857214.RAAc8xQxOsKfAKz3DaQv72tVp9BykQriiYUfYcBIbMkPE130_provenance.
- NP857214.RAAc8xQxOsKfAKz3DaQv72tVp9BykQriiYUfYcBIbMkPE130_assertion SIO_000772 18812404 NP857214.RAAc8xQxOsKfAKz3DaQv72tVp9BykQriiYUfYcBIbMkPE130_provenance.
- NP857214.RAAc8xQxOsKfAKz3DaQv72tVp9BykQriiYUfYcBIbMkPE130_assertion wasDerivedFrom befree-20140225 NP857214.RAAc8xQxOsKfAKz3DaQv72tVp9BykQriiYUfYcBIbMkPE130_provenance.
- NP857214.RAAc8xQxOsKfAKz3DaQv72tVp9BykQriiYUfYcBIbMkPE130_assertion wasGeneratedBy ECO_0000203 NP857214.RAAc8xQxOsKfAKz3DaQv72tVp9BykQriiYUfYcBIbMkPE130_provenance.