Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1352012.RAgOzfbDHWVlYSmIq2MudWEdPQ19HXbj7vmcIqNC4BHOI#assertion> ?p ?o ?g. }
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- assertion description "[Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.Cullup et al. recently identified mutations in the gene EPG5 as the cause of Vici syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 25331754 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.