Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP549643.RAffobm3Fc9GiOeXaCiG4bXz9ejXGGiuJdJNTltAxJARE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP549643.RAffobm3Fc9GiOeXaCiG4bXz9ejXGGiuJdJNTltAxJARE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP549643.RAffobm3Fc9GiOeXaCiG4bXz9ejXGGiuJdJNTltAxJARE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP549643.RAffobm3Fc9GiOeXaCiG4bXz9ejXGGiuJdJNTltAxJARE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP549643.RAffobm3Fc9GiOeXaCiG4bXz9ejXGGiuJdJNTltAxJARE130_provenance.
- NP549643.RAffobm3Fc9GiOeXaCiG4bXz9ejXGGiuJdJNTltAxJARE130_assertion wasGeneratedBy ECO_0000203 NP549643.RAffobm3Fc9GiOeXaCiG4bXz9ejXGGiuJdJNTltAxJARE130_provenance.
- NP549643.RAffobm3Fc9GiOeXaCiG4bXz9ejXGGiuJdJNTltAxJARE130_assertion wasDerivedFrom befree-20150227 NP549643.RAffobm3Fc9GiOeXaCiG4bXz9ejXGGiuJdJNTltAxJARE130_provenance.
- NP549643.RAffobm3Fc9GiOeXaCiG4bXz9ejXGGiuJdJNTltAxJARE130_assertion SIO_000772 15009163 NP549643.RAffobm3Fc9GiOeXaCiG4bXz9ejXGGiuJdJNTltAxJARE130_provenance.
- NP549643.RAffobm3Fc9GiOeXaCiG4bXz9ejXGGiuJdJNTltAxJARE130_assertion evidence source_evidence_literature NP549643.RAffobm3Fc9GiOeXaCiG4bXz9ejXGGiuJdJNTltAxJARE130_provenance.
- NP549643.RAffobm3Fc9GiOeXaCiG4bXz9ejXGGiuJdJNTltAxJARE130_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." NP549643.RAffobm3Fc9GiOeXaCiG4bXz9ejXGGiuJdJNTltAxJARE130_provenance.