Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP264340.RAFOV0VmIm9wjOjdC_xTnCxvbSEu8QIrSf0j1Px0z1GEo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP264340.RAFOV0VmIm9wjOjdC_xTnCxvbSEu8QIrSf0j1Px0z1GEo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP264340.RAFOV0VmIm9wjOjdC_xTnCxvbSEu8QIrSf0j1Px0z1GEo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP264340.RAFOV0VmIm9wjOjdC_xTnCxvbSEu8QIrSf0j1Px0z1GEo130_provenance.
- NP264340.RAFOV0VmIm9wjOjdC_xTnCxvbSEu8QIrSf0j1Px0z1GEo130_assertion description "[Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP264340.RAFOV0VmIm9wjOjdC_xTnCxvbSEu8QIrSf0j1Px0z1GEo130_provenance.
- NP264340.RAFOV0VmIm9wjOjdC_xTnCxvbSEu8QIrSf0j1Px0z1GEo130_assertion evidence source_evidence_literature NP264340.RAFOV0VmIm9wjOjdC_xTnCxvbSEu8QIrSf0j1Px0z1GEo130_provenance.
- NP264340.RAFOV0VmIm9wjOjdC_xTnCxvbSEu8QIrSf0j1Px0z1GEo130_assertion SIO_000772 10502831 NP264340.RAFOV0VmIm9wjOjdC_xTnCxvbSEu8QIrSf0j1Px0z1GEo130_provenance.
- NP264340.RAFOV0VmIm9wjOjdC_xTnCxvbSEu8QIrSf0j1Px0z1GEo130_assertion wasDerivedFrom befree-2016 NP264340.RAFOV0VmIm9wjOjdC_xTnCxvbSEu8QIrSf0j1Px0z1GEo130_provenance.
- NP264340.RAFOV0VmIm9wjOjdC_xTnCxvbSEu8QIrSf0j1Px0z1GEo130_assertion wasGeneratedBy ECO_0000203 NP264340.RAFOV0VmIm9wjOjdC_xTnCxvbSEu8QIrSf0j1Px0z1GEo130_provenance.
- befree-2016 importedOn "2016-02-19" NP264340.RAFOV0VmIm9wjOjdC_xTnCxvbSEu8QIrSf0j1Px0z1GEo130_provenance.