Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP434813.RAqwrgcoiwEkdTYjc_Bg0JtQlVmu7l9NSpjCLR8q2t3D4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP434813.RAqwrgcoiwEkdTYjc_Bg0JtQlVmu7l9NSpjCLR8q2t3D4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP434813.RAqwrgcoiwEkdTYjc_Bg0JtQlVmu7l9NSpjCLR8q2t3D4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP434813.RAqwrgcoiwEkdTYjc_Bg0JtQlVmu7l9NSpjCLR8q2t3D4130_provenance.
- befree-2016 importedOn "2016-02-19" NP434813.RAqwrgcoiwEkdTYjc_Bg0JtQlVmu7l9NSpjCLR8q2t3D4130_provenance.
- NP434813.RAqwrgcoiwEkdTYjc_Bg0JtQlVmu7l9NSpjCLR8q2t3D4130_assertion wasGeneratedBy ECO_0000203 NP434813.RAqwrgcoiwEkdTYjc_Bg0JtQlVmu7l9NSpjCLR8q2t3D4130_provenance.
- NP434813.RAqwrgcoiwEkdTYjc_Bg0JtQlVmu7l9NSpjCLR8q2t3D4130_assertion wasDerivedFrom befree-2016 NP434813.RAqwrgcoiwEkdTYjc_Bg0JtQlVmu7l9NSpjCLR8q2t3D4130_provenance.
- NP434813.RAqwrgcoiwEkdTYjc_Bg0JtQlVmu7l9NSpjCLR8q2t3D4130_assertion SIO_000772 15009163 NP434813.RAqwrgcoiwEkdTYjc_Bg0JtQlVmu7l9NSpjCLR8q2t3D4130_provenance.
- NP434813.RAqwrgcoiwEkdTYjc_Bg0JtQlVmu7l9NSpjCLR8q2t3D4130_assertion evidence source_evidence_literature NP434813.RAqwrgcoiwEkdTYjc_Bg0JtQlVmu7l9NSpjCLR8q2t3D4130_provenance.
- NP434813.RAqwrgcoiwEkdTYjc_Bg0JtQlVmu7l9NSpjCLR8q2t3D4130_assertion description "[Systems frequently affected in MCP are the peripheral nervous system (myopathy, polyneuropathy, lactacidosis), brain (leucencephalopathy, calcifications, stroke-like episodes, atrophy with dementia, epilepsy, upper motor neuron signs, ataxia, extrapyramidal manifestations, fatigue), endocrinium (short stature, hyperhidrosis, diabetes, hyperlipidaemia, hypogonadism, amenorrhoea, delayed puberty), heart (impulse generation or conduction defects, cardiomyopathy, left ventricular non-compaction heart failure), eyes (cataract, glaucoma, pigmentary retinopathy, optic atrophy), ears (deafness, tinnitus, peripheral vertigo), guts (dysphagia, vomiting, diarrhoea, hepatopathy, pseudo-obstruction, pancreatitis, pancreas insufficiency), kidney (renal failure, cysts) and bone marrow (sideroblastic anaemia).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP434813.RAqwrgcoiwEkdTYjc_Bg0JtQlVmu7l9NSpjCLR8q2t3D4130_provenance.