Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP701241.RAj_6Lx8oNinOMGnnOZPCaA7rI6ApZ-FF2SKjF5yQM6IA130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP701241.RAj_6Lx8oNinOMGnnOZPCaA7rI6ApZ-FF2SKjF5yQM6IA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP701241.RAj_6Lx8oNinOMGnnOZPCaA7rI6ApZ-FF2SKjF5yQM6IA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP701241.RAj_6Lx8oNinOMGnnOZPCaA7rI6ApZ-FF2SKjF5yQM6IA130_provenance.
- NP701241.RAj_6Lx8oNinOMGnnOZPCaA7rI6ApZ-FF2SKjF5yQM6IA130_assertion description "[We report here a series of six patients with severe CTP deficiency, four males and two females; clinical presentations include mild to severe mental retardation (6/6), associated with psychiatric symptoms (5/6: autistic behaviour, chronic hallucinatory psychosis), seizures (2/6) and muscular symptoms (2/4 males).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP701241.RAj_6Lx8oNinOMGnnOZPCaA7rI6ApZ-FF2SKjF5yQM6IA130_provenance.
- NP701241.RAj_6Lx8oNinOMGnnOZPCaA7rI6ApZ-FF2SKjF5yQM6IA130_assertion evidence source_evidence_literature NP701241.RAj_6Lx8oNinOMGnnOZPCaA7rI6ApZ-FF2SKjF5yQM6IA130_provenance.
- NP701241.RAj_6Lx8oNinOMGnnOZPCaA7rI6ApZ-FF2SKjF5yQM6IA130_assertion SIO_000772 21660517 NP701241.RAj_6Lx8oNinOMGnnOZPCaA7rI6ApZ-FF2SKjF5yQM6IA130_provenance.
- NP701241.RAj_6Lx8oNinOMGnnOZPCaA7rI6ApZ-FF2SKjF5yQM6IA130_assertion wasDerivedFrom befree-20150227 NP701241.RAj_6Lx8oNinOMGnnOZPCaA7rI6ApZ-FF2SKjF5yQM6IA130_provenance.
- NP701241.RAj_6Lx8oNinOMGnnOZPCaA7rI6ApZ-FF2SKjF5yQM6IA130_assertion wasGeneratedBy ECO_0000203 NP701241.RAj_6Lx8oNinOMGnnOZPCaA7rI6ApZ-FF2SKjF5yQM6IA130_provenance.
- befree-20150227 importedOn "2015-02-27" NP701241.RAj_6Lx8oNinOMGnnOZPCaA7rI6ApZ-FF2SKjF5yQM6IA130_provenance.