Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP235356.RAe-eW9DNnEH0Qn6XiNEnPdC6-7XAGLHT7DIcvSdMixZQ130_assertion> ?p ?o ?g. }
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- NP235356.RAe-eW9DNnEH0Qn6XiNEnPdC6-7XAGLHT7DIcvSdMixZQ130_assertion type Assertion NP235356.RAe-eW9DNnEH0Qn6XiNEnPdC6-7XAGLHT7DIcvSdMixZQ130_head.
- NP235356.RAe-eW9DNnEH0Qn6XiNEnPdC6-7XAGLHT7DIcvSdMixZQ130_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." NP235356.RAe-eW9DNnEH0Qn6XiNEnPdC6-7XAGLHT7DIcvSdMixZQ130_provenance.
- NP235356.RAe-eW9DNnEH0Qn6XiNEnPdC6-7XAGLHT7DIcvSdMixZQ130_assertion evidence source_evidence_literature NP235356.RAe-eW9DNnEH0Qn6XiNEnPdC6-7XAGLHT7DIcvSdMixZQ130_provenance.
- NP235356.RAe-eW9DNnEH0Qn6XiNEnPdC6-7XAGLHT7DIcvSdMixZQ130_assertion SIO_000772 11409433 NP235356.RAe-eW9DNnEH0Qn6XiNEnPdC6-7XAGLHT7DIcvSdMixZQ130_provenance.
- NP235356.RAe-eW9DNnEH0Qn6XiNEnPdC6-7XAGLHT7DIcvSdMixZQ130_assertion wasDerivedFrom befree-20140225 NP235356.RAe-eW9DNnEH0Qn6XiNEnPdC6-7XAGLHT7DIcvSdMixZQ130_provenance.
- NP235356.RAe-eW9DNnEH0Qn6XiNEnPdC6-7XAGLHT7DIcvSdMixZQ130_assertion wasGeneratedBy ECO_0000203 NP235356.RAe-eW9DNnEH0Qn6XiNEnPdC6-7XAGLHT7DIcvSdMixZQ130_provenance.