Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP169873.RA1dQklVC6dmWyUGVa1AxxVr24LZCyGFLnExtVkXg9b3o130_assertion> ?p ?o ?g. }
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- NP169873.RA1dQklVC6dmWyUGVa1AxxVr24LZCyGFLnExtVkXg9b3o130_assertion type Assertion NP169873.RA1dQklVC6dmWyUGVa1AxxVr24LZCyGFLnExtVkXg9b3o130_head.
- NP169873.RA1dQklVC6dmWyUGVa1AxxVr24LZCyGFLnExtVkXg9b3o130_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." NP169873.RA1dQklVC6dmWyUGVa1AxxVr24LZCyGFLnExtVkXg9b3o130_provenance.
- NP169873.RA1dQklVC6dmWyUGVa1AxxVr24LZCyGFLnExtVkXg9b3o130_assertion evidence source_evidence_literature NP169873.RA1dQklVC6dmWyUGVa1AxxVr24LZCyGFLnExtVkXg9b3o130_provenance.
- NP169873.RA1dQklVC6dmWyUGVa1AxxVr24LZCyGFLnExtVkXg9b3o130_assertion SIO_000772 16294144 NP169873.RA1dQklVC6dmWyUGVa1AxxVr24LZCyGFLnExtVkXg9b3o130_provenance.
- NP169873.RA1dQklVC6dmWyUGVa1AxxVr24LZCyGFLnExtVkXg9b3o130_assertion wasDerivedFrom befree-20140225 NP169873.RA1dQklVC6dmWyUGVa1AxxVr24LZCyGFLnExtVkXg9b3o130_provenance.
- NP169873.RA1dQklVC6dmWyUGVa1AxxVr24LZCyGFLnExtVkXg9b3o130_assertion wasGeneratedBy ECO_0000203 NP169873.RA1dQklVC6dmWyUGVa1AxxVr24LZCyGFLnExtVkXg9b3o130_provenance.