Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP815581.RAoOd1weOAv4QE5UPX4J-zGSJw3YqN7KJglASELVOkXIs130_assertion> ?p ?o ?g. }
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- NP815581.RAoOd1weOAv4QE5UPX4J-zGSJw3YqN7KJglASELVOkXIs130_assertion type Assertion NP815581.RAoOd1weOAv4QE5UPX4J-zGSJw3YqN7KJglASELVOkXIs130_head.
- NP815581.RAoOd1weOAv4QE5UPX4J-zGSJw3YqN7KJglASELVOkXIs130_assertion description "[Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP815581.RAoOd1weOAv4QE5UPX4J-zGSJw3YqN7KJglASELVOkXIs130_provenance.
- NP815581.RAoOd1weOAv4QE5UPX4J-zGSJw3YqN7KJglASELVOkXIs130_assertion evidence source_evidence_literature NP815581.RAoOd1weOAv4QE5UPX4J-zGSJw3YqN7KJglASELVOkXIs130_provenance.
- NP815581.RAoOd1weOAv4QE5UPX4J-zGSJw3YqN7KJglASELVOkXIs130_assertion SIO_000772 17273969 NP815581.RAoOd1weOAv4QE5UPX4J-zGSJw3YqN7KJglASELVOkXIs130_provenance.
- NP815581.RAoOd1weOAv4QE5UPX4J-zGSJw3YqN7KJglASELVOkXIs130_assertion wasDerivedFrom befree-20150227 NP815581.RAoOd1weOAv4QE5UPX4J-zGSJw3YqN7KJglASELVOkXIs130_provenance.
- NP815581.RAoOd1weOAv4QE5UPX4J-zGSJw3YqN7KJglASELVOkXIs130_assertion wasGeneratedBy ECO_0000203 NP815581.RAoOd1weOAv4QE5UPX4J-zGSJw3YqN7KJglASELVOkXIs130_provenance.