Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP592059.RAp2TNURAl0yY4CNbhG4M5xFwHYaXhsjk6vv4A7QO5llg130_assertion> ?p ?o ?g. }
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- NP592059.RAp2TNURAl0yY4CNbhG4M5xFwHYaXhsjk6vv4A7QO5llg130_assertion type Assertion NP592059.RAp2TNURAl0yY4CNbhG4M5xFwHYaXhsjk6vv4A7QO5llg130_head.
- NP592059.RAp2TNURAl0yY4CNbhG4M5xFwHYaXhsjk6vv4A7QO5llg130_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." NP592059.RAp2TNURAl0yY4CNbhG4M5xFwHYaXhsjk6vv4A7QO5llg130_provenance.
- NP592059.RAp2TNURAl0yY4CNbhG4M5xFwHYaXhsjk6vv4A7QO5llg130_assertion evidence source_evidence_literature NP592059.RAp2TNURAl0yY4CNbhG4M5xFwHYaXhsjk6vv4A7QO5llg130_provenance.
- NP592059.RAp2TNURAl0yY4CNbhG4M5xFwHYaXhsjk6vv4A7QO5llg130_assertion SIO_000772 17273969 NP592059.RAp2TNURAl0yY4CNbhG4M5xFwHYaXhsjk6vv4A7QO5llg130_provenance.
- NP592059.RAp2TNURAl0yY4CNbhG4M5xFwHYaXhsjk6vv4A7QO5llg130_assertion wasDerivedFrom befree-2016 NP592059.RAp2TNURAl0yY4CNbhG4M5xFwHYaXhsjk6vv4A7QO5llg130_provenance.
- NP592059.RAp2TNURAl0yY4CNbhG4M5xFwHYaXhsjk6vv4A7QO5llg130_assertion wasGeneratedBy ECO_0000203 NP592059.RAp2TNURAl0yY4CNbhG4M5xFwHYaXhsjk6vv4A7QO5llg130_provenance.