Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP976704.RAMVU3H7RyCivHxvP610BpvczmI05NjzO-aZE2rpdD3QE130_assertion> ?p ?o ?g. }
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- NP976704.RAMVU3H7RyCivHxvP610BpvczmI05NjzO-aZE2rpdD3QE130_assertion type Assertion NP976704.RAMVU3H7RyCivHxvP610BpvczmI05NjzO-aZE2rpdD3QE130_head.
- NP976704.RAMVU3H7RyCivHxvP610BpvczmI05NjzO-aZE2rpdD3QE130_assertion description "[Cohen syndrome (CS) is a rare autosomal recessive condition caused by mutations and/or large rearrangements in the VPS13B gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP976704.RAMVU3H7RyCivHxvP610BpvczmI05NjzO-aZE2rpdD3QE130_provenance.
- NP976704.RAMVU3H7RyCivHxvP610BpvczmI05NjzO-aZE2rpdD3QE130_assertion evidence source_evidence_literature NP976704.RAMVU3H7RyCivHxvP610BpvczmI05NjzO-aZE2rpdD3QE130_provenance.
- NP976704.RAMVU3H7RyCivHxvP610BpvczmI05NjzO-aZE2rpdD3QE130_assertion SIO_000772 23188044 NP976704.RAMVU3H7RyCivHxvP610BpvczmI05NjzO-aZE2rpdD3QE130_provenance.
- NP976704.RAMVU3H7RyCivHxvP610BpvczmI05NjzO-aZE2rpdD3QE130_assertion wasDerivedFrom befree-20150227 NP976704.RAMVU3H7RyCivHxvP610BpvczmI05NjzO-aZE2rpdD3QE130_provenance.
- NP976704.RAMVU3H7RyCivHxvP610BpvczmI05NjzO-aZE2rpdD3QE130_assertion wasGeneratedBy ECO_0000203 NP976704.RAMVU3H7RyCivHxvP610BpvczmI05NjzO-aZE2rpdD3QE130_provenance.