Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP775955.RAfYkiGBpm0ae4qxkqRKMP-Lc52k7e9Gn3Kkn_j0sqg4M130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP775955.RAfYkiGBpm0ae4qxkqRKMP-Lc52k7e9Gn3Kkn_j0sqg4M130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP775955.RAfYkiGBpm0ae4qxkqRKMP-Lc52k7e9Gn3Kkn_j0sqg4M130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP775955.RAfYkiGBpm0ae4qxkqRKMP-Lc52k7e9Gn3Kkn_j0sqg4M130_provenance.
- NP775955.RAfYkiGBpm0ae4qxkqRKMP-Lc52k7e9Gn3Kkn_j0sqg4M130_assertion wasGeneratedBy ECO_0000203 NP775955.RAfYkiGBpm0ae4qxkqRKMP-Lc52k7e9Gn3Kkn_j0sqg4M130_provenance.
- NP775955.RAfYkiGBpm0ae4qxkqRKMP-Lc52k7e9Gn3Kkn_j0sqg4M130_assertion wasDerivedFrom befree-20140225 NP775955.RAfYkiGBpm0ae4qxkqRKMP-Lc52k7e9Gn3Kkn_j0sqg4M130_provenance.
- NP775955.RAfYkiGBpm0ae4qxkqRKMP-Lc52k7e9Gn3Kkn_j0sqg4M130_assertion SIO_000772 18512229 NP775955.RAfYkiGBpm0ae4qxkqRKMP-Lc52k7e9Gn3Kkn_j0sqg4M130_provenance.
- NP775955.RAfYkiGBpm0ae4qxkqRKMP-Lc52k7e9Gn3Kkn_j0sqg4M130_assertion evidence source_evidence_literature NP775955.RAfYkiGBpm0ae4qxkqRKMP-Lc52k7e9Gn3Kkn_j0sqg4M130_provenance.
- NP775955.RAfYkiGBpm0ae4qxkqRKMP-Lc52k7e9Gn3Kkn_j0sqg4M130_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." NP775955.RAfYkiGBpm0ae4qxkqRKMP-Lc52k7e9Gn3Kkn_j0sqg4M130_provenance.
- befree-20140225 importedOn "2014-02-25" NP775955.RAfYkiGBpm0ae4qxkqRKMP-Lc52k7e9Gn3Kkn_j0sqg4M130_provenance.