Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP126775.RAAFUHZKVjzvEVqsWEtulGEAfnfEQA5ekIsSy-NxAOq5I130_assertion> ?p ?o ?g. }
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- NP126775.RAAFUHZKVjzvEVqsWEtulGEAfnfEQA5ekIsSy-NxAOq5I130_assertion type Assertion NP126775.RAAFUHZKVjzvEVqsWEtulGEAfnfEQA5ekIsSy-NxAOq5I130_head.
- NP126775.RAAFUHZKVjzvEVqsWEtulGEAfnfEQA5ekIsSy-NxAOq5I130_assertion description "[A protein truncating mutation was identified in the gene CC2D1A in nine consanguineous families with severe autosomal recessive mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP126775.RAAFUHZKVjzvEVqsWEtulGEAfnfEQA5ekIsSy-NxAOq5I130_provenance.
- NP126775.RAAFUHZKVjzvEVqsWEtulGEAfnfEQA5ekIsSy-NxAOq5I130_assertion evidence source_evidence_literature NP126775.RAAFUHZKVjzvEVqsWEtulGEAfnfEQA5ekIsSy-NxAOq5I130_provenance.
- NP126775.RAAFUHZKVjzvEVqsWEtulGEAfnfEQA5ekIsSy-NxAOq5I130_assertion SIO_000772 16033914 NP126775.RAAFUHZKVjzvEVqsWEtulGEAfnfEQA5ekIsSy-NxAOq5I130_provenance.
- NP126775.RAAFUHZKVjzvEVqsWEtulGEAfnfEQA5ekIsSy-NxAOq5I130_assertion wasDerivedFrom lhgdn-20090331 NP126775.RAAFUHZKVjzvEVqsWEtulGEAfnfEQA5ekIsSy-NxAOq5I130_provenance.
- NP126775.RAAFUHZKVjzvEVqsWEtulGEAfnfEQA5ekIsSy-NxAOq5I130_assertion wasGeneratedBy ECO_0000203 NP126775.RAAFUHZKVjzvEVqsWEtulGEAfnfEQA5ekIsSy-NxAOq5I130_provenance.