Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP961696.RAJfOEEjlRXjMn_zp_d9friKIwUBPYuqdl1vUv70u7z_E130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP961696.RAJfOEEjlRXjMn_zp_d9friKIwUBPYuqdl1vUv70u7z_E130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP961696.RAJfOEEjlRXjMn_zp_d9friKIwUBPYuqdl1vUv70u7z_E130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP961696.RAJfOEEjlRXjMn_zp_d9friKIwUBPYuqdl1vUv70u7z_E130_provenance.
- NP961696.RAJfOEEjlRXjMn_zp_d9friKIwUBPYuqdl1vUv70u7z_E130_assertion description "[Thus, in hGDH1, regulatory mutations that attenuate GTP inhibition can result in the hyperinsulinism/hyperammonemia syndrome, which is often associated with epileptic seizures, mental retardation, and generalized dystonia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP961696.RAJfOEEjlRXjMn_zp_d9friKIwUBPYuqdl1vUv70u7z_E130_provenance.
- NP961696.RAJfOEEjlRXjMn_zp_d9friKIwUBPYuqdl1vUv70u7z_E130_assertion evidence source_evidence_literature NP961696.RAJfOEEjlRXjMn_zp_d9friKIwUBPYuqdl1vUv70u7z_E130_provenance.
- NP961696.RAJfOEEjlRXjMn_zp_d9friKIwUBPYuqdl1vUv70u7z_E130_assertion SIO_000772 23463419 NP961696.RAJfOEEjlRXjMn_zp_d9friKIwUBPYuqdl1vUv70u7z_E130_provenance.
- NP961696.RAJfOEEjlRXjMn_zp_d9friKIwUBPYuqdl1vUv70u7z_E130_assertion wasDerivedFrom befree-20150227 NP961696.RAJfOEEjlRXjMn_zp_d9friKIwUBPYuqdl1vUv70u7z_E130_provenance.
- NP961696.RAJfOEEjlRXjMn_zp_d9friKIwUBPYuqdl1vUv70u7z_E130_assertion wasGeneratedBy ECO_0000203 NP961696.RAJfOEEjlRXjMn_zp_d9friKIwUBPYuqdl1vUv70u7z_E130_provenance.
- befree-20150227 importedOn "2015-02-27" NP961696.RAJfOEEjlRXjMn_zp_d9friKIwUBPYuqdl1vUv70u7z_E130_provenance.