Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP603236.RA1URy4s1I2zkdJHYqUEDGdAuOrdJ56w66y7fVZOIN-8E130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP603236.RA1URy4s1I2zkdJHYqUEDGdAuOrdJ56w66y7fVZOIN-8E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP603236.RA1URy4s1I2zkdJHYqUEDGdAuOrdJ56w66y7fVZOIN-8E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP603236.RA1URy4s1I2zkdJHYqUEDGdAuOrdJ56w66y7fVZOIN-8E130_provenance.
- befree-20150227 importedOn "2015-02-27" NP603236.RA1URy4s1I2zkdJHYqUEDGdAuOrdJ56w66y7fVZOIN-8E130_provenance.
- NP603236.RA1URy4s1I2zkdJHYqUEDGdAuOrdJ56w66y7fVZOIN-8E130_assertion wasGeneratedBy ECO_0000203 NP603236.RA1URy4s1I2zkdJHYqUEDGdAuOrdJ56w66y7fVZOIN-8E130_provenance.
- NP603236.RA1URy4s1I2zkdJHYqUEDGdAuOrdJ56w66y7fVZOIN-8E130_assertion wasDerivedFrom befree-20150227 NP603236.RA1URy4s1I2zkdJHYqUEDGdAuOrdJ56w66y7fVZOIN-8E130_provenance.
- NP603236.RA1URy4s1I2zkdJHYqUEDGdAuOrdJ56w66y7fVZOIN-8E130_assertion SIO_000772 18512229 NP603236.RA1URy4s1I2zkdJHYqUEDGdAuOrdJ56w66y7fVZOIN-8E130_provenance.
- NP603236.RA1URy4s1I2zkdJHYqUEDGdAuOrdJ56w66y7fVZOIN-8E130_assertion evidence source_evidence_literature NP603236.RA1URy4s1I2zkdJHYqUEDGdAuOrdJ56w66y7fVZOIN-8E130_provenance.
- NP603236.RA1URy4s1I2zkdJHYqUEDGdAuOrdJ56w66y7fVZOIN-8E130_assertion description "[OPHN1 mutations cause a syndromic form of mental retardation (MR) characterized by cerebellar hypoplasia, early hypotonia, motor and speech delay, with occasional seizures and strabismus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP603236.RA1URy4s1I2zkdJHYqUEDGdAuOrdJ56w66y7fVZOIN-8E130_provenance.