Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_provenance.
- NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_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." NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_provenance.
- NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_assertion evidence source_evidence_literature NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_provenance.
- NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_assertion SIO_000772 25331754 NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_provenance.
- NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_assertion wasDerivedFrom befree-2016 NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_provenance.
- NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_assertion wasGeneratedBy ECO_0000203 NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_provenance.