Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_provenance.
- NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_assertion description "[The index patient was homozygous for a 3889C>T nonsense mutation in the VPS13A gene and presented with a typical ChAc phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_provenance.
- NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_assertion evidence source_evidence_literature NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_provenance.
- NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_assertion SIO_000772 17673232 NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_provenance.
- NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_assertion wasDerivedFrom befree-2016 NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_provenance.
- NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_assertion wasGeneratedBy ECO_0000203 NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_provenance.
- befree-2016 importedOn "2016-02-19" NP623354.RAVBgzLsjMcCGMFP8bI8c6_nUHl9RdfnFquzqjawK2jW0130_provenance.