Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP110404.RAT2AQa3nRl85qb1k3Ia2s8kz93p6pwl9C874ZB0q-pUw130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP110404.RAT2AQa3nRl85qb1k3Ia2s8kz93p6pwl9C874ZB0q-pUw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP110404.RAT2AQa3nRl85qb1k3Ia2s8kz93p6pwl9C874ZB0q-pUw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP110404.RAT2AQa3nRl85qb1k3Ia2s8kz93p6pwl9C874ZB0q-pUw130_provenance.
- NP110404.RAT2AQa3nRl85qb1k3Ia2s8kz93p6pwl9C874ZB0q-pUw130_assertion description "[A novel mutation in exon 8 of the PSEN1 gene (V261L) was associated with early-onset autosomal dominant Alzheimer's disease & spastic paraparesis in 3 family members.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP110404.RAT2AQa3nRl85qb1k3Ia2s8kz93p6pwl9C874ZB0q-pUw130_provenance.
- NP110404.RAT2AQa3nRl85qb1k3Ia2s8kz93p6pwl9C874ZB0q-pUw130_assertion evidence source_evidence_literature NP110404.RAT2AQa3nRl85qb1k3Ia2s8kz93p6pwl9C874ZB0q-pUw130_provenance.
- NP110404.RAT2AQa3nRl85qb1k3Ia2s8kz93p6pwl9C874ZB0q-pUw130_assertion SIO_000772 18637955 NP110404.RAT2AQa3nRl85qb1k3Ia2s8kz93p6pwl9C874ZB0q-pUw130_provenance.
- NP110404.RAT2AQa3nRl85qb1k3Ia2s8kz93p6pwl9C874ZB0q-pUw130_assertion wasDerivedFrom lhgdn-20090331 NP110404.RAT2AQa3nRl85qb1k3Ia2s8kz93p6pwl9C874ZB0q-pUw130_provenance.
- NP110404.RAT2AQa3nRl85qb1k3Ia2s8kz93p6pwl9C874ZB0q-pUw130_assertion wasGeneratedBy ECO_0000203 NP110404.RAT2AQa3nRl85qb1k3Ia2s8kz93p6pwl9C874ZB0q-pUw130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP110404.RAT2AQa3nRl85qb1k3Ia2s8kz93p6pwl9C874ZB0q-pUw130_provenance.