Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_provenance.
- befree-20150227 importedOn "2015-02-27" NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_provenance.
- NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_assertion wasGeneratedBy ECO_0000203 NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_provenance.
- NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_assertion wasDerivedFrom befree-20150227 NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_provenance.
- NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_assertion SIO_000772 15009163 NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_provenance.
- NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_assertion evidence source_evidence_literature NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_provenance.
- NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_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." NP280241.RAr5cViSYsyPUmoahW_6n1Qr9z54UyRx8yc4rE4zaZWDU130_provenance.