Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP820316.RA2BtWdQ5q651u1SEyh2RKfxS97Ikh6UY6-UzztIVCPOg130_assertion> ?p ?o ?g. }
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- NP820316.RA2BtWdQ5q651u1SEyh2RKfxS97Ikh6UY6-UzztIVCPOg130_assertion type Assertion NP820316.RA2BtWdQ5q651u1SEyh2RKfxS97Ikh6UY6-UzztIVCPOg130_head.
- NP820316.RA2BtWdQ5q651u1SEyh2RKfxS97Ikh6UY6-UzztIVCPOg130_assertion description "[Cycle sequencing of amplified NDUFS8 cDNA of 20 patients with isolated enzymatic complex I deficiency revealed two compound heterozygous transitions in a patient with neuropathologically proven Leigh syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP820316.RA2BtWdQ5q651u1SEyh2RKfxS97Ikh6UY6-UzztIVCPOg130_provenance.
- NP820316.RA2BtWdQ5q651u1SEyh2RKfxS97Ikh6UY6-UzztIVCPOg130_assertion evidence source_evidence_literature NP820316.RA2BtWdQ5q651u1SEyh2RKfxS97Ikh6UY6-UzztIVCPOg130_provenance.
- NP820316.RA2BtWdQ5q651u1SEyh2RKfxS97Ikh6UY6-UzztIVCPOg130_assertion SIO_000772 9837812 NP820316.RA2BtWdQ5q651u1SEyh2RKfxS97Ikh6UY6-UzztIVCPOg130_provenance.
- NP820316.RA2BtWdQ5q651u1SEyh2RKfxS97Ikh6UY6-UzztIVCPOg130_assertion wasDerivedFrom befree-20140225 NP820316.RA2BtWdQ5q651u1SEyh2RKfxS97Ikh6UY6-UzztIVCPOg130_provenance.
- NP820316.RA2BtWdQ5q651u1SEyh2RKfxS97Ikh6UY6-UzztIVCPOg130_assertion wasGeneratedBy ECO_0000203 NP820316.RA2BtWdQ5q651u1SEyh2RKfxS97Ikh6UY6-UzztIVCPOg130_provenance.