Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1073663.RAHItCG08JGJRuAD_En8O1Tr433Tvz6Om3VIGgTGung3I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1073663.RAHItCG08JGJRuAD_En8O1Tr433Tvz6Om3VIGgTGung3I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1073663.RAHItCG08JGJRuAD_En8O1Tr433Tvz6Om3VIGgTGung3I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1073663.RAHItCG08JGJRuAD_En8O1Tr433Tvz6Om3VIGgTGung3I130_provenance.
- NP1073663.RAHItCG08JGJRuAD_En8O1Tr433Tvz6Om3VIGgTGung3I130_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." NP1073663.RAHItCG08JGJRuAD_En8O1Tr433Tvz6Om3VIGgTGung3I130_provenance.
- NP1073663.RAHItCG08JGJRuAD_En8O1Tr433Tvz6Om3VIGgTGung3I130_assertion evidence source_evidence_literature NP1073663.RAHItCG08JGJRuAD_En8O1Tr433Tvz6Om3VIGgTGung3I130_provenance.
- NP1073663.RAHItCG08JGJRuAD_En8O1Tr433Tvz6Om3VIGgTGung3I130_assertion SIO_000772 23631824 NP1073663.RAHItCG08JGJRuAD_En8O1Tr433Tvz6Om3VIGgTGung3I130_provenance.
- NP1073663.RAHItCG08JGJRuAD_En8O1Tr433Tvz6Om3VIGgTGung3I130_assertion wasDerivedFrom befree-2016 NP1073663.RAHItCG08JGJRuAD_En8O1Tr433Tvz6Om3VIGgTGung3I130_provenance.
- NP1073663.RAHItCG08JGJRuAD_En8O1Tr433Tvz6Om3VIGgTGung3I130_assertion wasGeneratedBy ECO_0000203 NP1073663.RAHItCG08JGJRuAD_En8O1Tr433Tvz6Om3VIGgTGung3I130_provenance.
- befree-2016 importedOn "2016-02-19" NP1073663.RAHItCG08JGJRuAD_En8O1Tr433Tvz6Om3VIGgTGung3I130_provenance.