Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_provenance.
- NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_assertion description "[A large deletion (1.5 Mb) encompassing the neurofibromatosis type 1 (NF1) gene in a patient with sporadic NF1 associated with dysmorphism, mental retardation, and unusual ocular and skeletal features.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_provenance.
- NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_assertion evidence source_evidence_literature NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_provenance.
- NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_assertion SIO_000772 14564162 NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_provenance.
- NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_assertion wasDerivedFrom befree-20140225 NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_provenance.
- NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_assertion wasGeneratedBy ECO_0000203 NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_provenance.
- befree-20140225 importedOn "2014-02-25" NP478381.RAV7apq0pEHPBtVXZt7Si9FG9dgxFOHI1BDWjtq5LNWOo130_provenance.