Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP534559.RAGX06t1IduMskS7GLnCXXOxdBhGjaAw8D3-0EwXdmuBY130_assertion> ?p ?o ?g. }
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- NP534559.RAGX06t1IduMskS7GLnCXXOxdBhGjaAw8D3-0EwXdmuBY130_assertion type Assertion NP534559.RAGX06t1IduMskS7GLnCXXOxdBhGjaAw8D3-0EwXdmuBY130_head.
- NP534559.RAGX06t1IduMskS7GLnCXXOxdBhGjaAw8D3-0EwXdmuBY130_assertion description "[Although all previously reported mutations in the SURF1 gene have been found in patients with cytochrome oxidase (COX)-deficient Leigh syndrome, the phenotype associated with SURF1 protein deficiency should be extended to include leukodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP534559.RAGX06t1IduMskS7GLnCXXOxdBhGjaAw8D3-0EwXdmuBY130_provenance.
- NP534559.RAGX06t1IduMskS7GLnCXXOxdBhGjaAw8D3-0EwXdmuBY130_assertion evidence source_evidence_literature NP534559.RAGX06t1IduMskS7GLnCXXOxdBhGjaAw8D3-0EwXdmuBY130_provenance.
- NP534559.RAGX06t1IduMskS7GLnCXXOxdBhGjaAw8D3-0EwXdmuBY130_assertion SIO_000772 11409433 NP534559.RAGX06t1IduMskS7GLnCXXOxdBhGjaAw8D3-0EwXdmuBY130_provenance.
- NP534559.RAGX06t1IduMskS7GLnCXXOxdBhGjaAw8D3-0EwXdmuBY130_assertion wasDerivedFrom befree-20140225 NP534559.RAGX06t1IduMskS7GLnCXXOxdBhGjaAw8D3-0EwXdmuBY130_provenance.
- NP534559.RAGX06t1IduMskS7GLnCXXOxdBhGjaAw8D3-0EwXdmuBY130_assertion wasGeneratedBy ECO_0000203 NP534559.RAGX06t1IduMskS7GLnCXXOxdBhGjaAw8D3-0EwXdmuBY130_provenance.