Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP549686.RAKgnTGvJLIuO-xcvZSXYb3XH9OO6X-P9RlchlI5JwoL0130_assertion> ?p ?o ?g. }
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- NP549686.RAKgnTGvJLIuO-xcvZSXYb3XH9OO6X-P9RlchlI5JwoL0130_assertion type Assertion NP549686.RAKgnTGvJLIuO-xcvZSXYb3XH9OO6X-P9RlchlI5JwoL0130_head.
- NP549686.RAKgnTGvJLIuO-xcvZSXYb3XH9OO6X-P9RlchlI5JwoL0130_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." NP549686.RAKgnTGvJLIuO-xcvZSXYb3XH9OO6X-P9RlchlI5JwoL0130_provenance.
- NP549686.RAKgnTGvJLIuO-xcvZSXYb3XH9OO6X-P9RlchlI5JwoL0130_assertion evidence source_evidence_literature NP549686.RAKgnTGvJLIuO-xcvZSXYb3XH9OO6X-P9RlchlI5JwoL0130_provenance.
- NP549686.RAKgnTGvJLIuO-xcvZSXYb3XH9OO6X-P9RlchlI5JwoL0130_assertion SIO_000772 15009163 NP549686.RAKgnTGvJLIuO-xcvZSXYb3XH9OO6X-P9RlchlI5JwoL0130_provenance.
- NP549686.RAKgnTGvJLIuO-xcvZSXYb3XH9OO6X-P9RlchlI5JwoL0130_assertion wasDerivedFrom befree-20150227 NP549686.RAKgnTGvJLIuO-xcvZSXYb3XH9OO6X-P9RlchlI5JwoL0130_provenance.
- NP549686.RAKgnTGvJLIuO-xcvZSXYb3XH9OO6X-P9RlchlI5JwoL0130_assertion wasGeneratedBy ECO_0000203 NP549686.RAKgnTGvJLIuO-xcvZSXYb3XH9OO6X-P9RlchlI5JwoL0130_provenance.