Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP887250.RA0IHRG4BrlY5FQiyviXqOmgpMibeC_kH9wIgU2jrvckY130_assertion> ?p ?o ?g. }
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- NP887250.RA0IHRG4BrlY5FQiyviXqOmgpMibeC_kH9wIgU2jrvckY130_assertion type Assertion NP887250.RA0IHRG4BrlY5FQiyviXqOmgpMibeC_kH9wIgU2jrvckY130_head.
- NP887250.RA0IHRG4BrlY5FQiyviXqOmgpMibeC_kH9wIgU2jrvckY130_assertion description "[One patient was found to have Leigh syndrome due to a mutation in MT-ATP6, two affected siblings were discovered to be compound heterozygous for mutations in the NDUFV1 gene, which causes mitochondrial complex I deficiency, and one patient was found to have coenzyme Q10 deficiency due to compound heterozygous mutations in COQ2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP887250.RA0IHRG4BrlY5FQiyviXqOmgpMibeC_kH9wIgU2jrvckY130_provenance.
- NP887250.RA0IHRG4BrlY5FQiyviXqOmgpMibeC_kH9wIgU2jrvckY130_assertion evidence source_evidence_literature NP887250.RA0IHRG4BrlY5FQiyviXqOmgpMibeC_kH9wIgU2jrvckY130_provenance.
- NP887250.RA0IHRG4BrlY5FQiyviXqOmgpMibeC_kH9wIgU2jrvckY130_assertion SIO_000772 23631824 NP887250.RA0IHRG4BrlY5FQiyviXqOmgpMibeC_kH9wIgU2jrvckY130_provenance.
- NP887250.RA0IHRG4BrlY5FQiyviXqOmgpMibeC_kH9wIgU2jrvckY130_assertion wasDerivedFrom befree-20150227 NP887250.RA0IHRG4BrlY5FQiyviXqOmgpMibeC_kH9wIgU2jrvckY130_provenance.
- NP887250.RA0IHRG4BrlY5FQiyviXqOmgpMibeC_kH9wIgU2jrvckY130_assertion wasGeneratedBy ECO_0000203 NP887250.RA0IHRG4BrlY5FQiyviXqOmgpMibeC_kH9wIgU2jrvckY130_provenance.