Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP523120.RAzEdSzXIQ6KUE0Zrjv0D4YnIMeTsm3MfdivWjU6s8TfQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP523120.RAzEdSzXIQ6KUE0Zrjv0D4YnIMeTsm3MfdivWjU6s8TfQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP523120.RAzEdSzXIQ6KUE0Zrjv0D4YnIMeTsm3MfdivWjU6s8TfQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP523120.RAzEdSzXIQ6KUE0Zrjv0D4YnIMeTsm3MfdivWjU6s8TfQ130_provenance.
- NP523120.RAzEdSzXIQ6KUE0Zrjv0D4YnIMeTsm3MfdivWjU6s8TfQ130_assertion description "[A review of the 72 reported cases together with these 3 cases revealed that this condition was associated with (a) a specific cluster of neurological symptoms including leukoencephalopathy (96%), polyneuropathy (96%), ophthalmoplegia (91%) and hearing loss (55%); (b) a CIPO syndrome with the presence of small bowel diverticulae (53%); and (c) mitochondrial cytopathy in 36 of the 37 tested patients (2 of our 3 cases), and thymidine phosphorylase gene mutations in all the 37 tested patients (2 of our cases).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP523120.RAzEdSzXIQ6KUE0Zrjv0D4YnIMeTsm3MfdivWjU6s8TfQ130_provenance.
- NP523120.RAzEdSzXIQ6KUE0Zrjv0D4YnIMeTsm3MfdivWjU6s8TfQ130_assertion evidence source_evidence_literature NP523120.RAzEdSzXIQ6KUE0Zrjv0D4YnIMeTsm3MfdivWjU6s8TfQ130_provenance.
- NP523120.RAzEdSzXIQ6KUE0Zrjv0D4YnIMeTsm3MfdivWjU6s8TfQ130_assertion SIO_000772 16294144 NP523120.RAzEdSzXIQ6KUE0Zrjv0D4YnIMeTsm3MfdivWjU6s8TfQ130_provenance.
- NP523120.RAzEdSzXIQ6KUE0Zrjv0D4YnIMeTsm3MfdivWjU6s8TfQ130_assertion wasDerivedFrom befree-2016 NP523120.RAzEdSzXIQ6KUE0Zrjv0D4YnIMeTsm3MfdivWjU6s8TfQ130_provenance.
- NP523120.RAzEdSzXIQ6KUE0Zrjv0D4YnIMeTsm3MfdivWjU6s8TfQ130_assertion wasGeneratedBy ECO_0000203 NP523120.RAzEdSzXIQ6KUE0Zrjv0D4YnIMeTsm3MfdivWjU6s8TfQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP523120.RAzEdSzXIQ6KUE0Zrjv0D4YnIMeTsm3MfdivWjU6s8TfQ130_provenance.