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- source_evidence_literature type ECO_0000212 NP622266.RACvFsUSZ1E3ZcLG9KE77NObY-bhMWiBCyu29Ao9zYumk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP622266.RACvFsUSZ1E3ZcLG9KE77NObY-bhMWiBCyu29Ao9zYumk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP622266.RACvFsUSZ1E3ZcLG9KE77NObY-bhMWiBCyu29Ao9zYumk130_provenance.
- NP622266.RACvFsUSZ1E3ZcLG9KE77NObY-bhMWiBCyu29Ao9zYumk130_assertion description "[Finally OPA1 missense mutations are involved in phenotypes presenting optic atrophy as a major feature.To define the relative contribution of POLG1, POLG2, ANT1 and PEO1 genes to the mtDNA multiple deletion syndromes, we analysed them in a cohort of 67 probands showing accumulation of multiple mtDNA deletions in muscle.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP622266.RACvFsUSZ1E3ZcLG9KE77NObY-bhMWiBCyu29Ao9zYumk130_provenance.
- NP622266.RACvFsUSZ1E3ZcLG9KE77NObY-bhMWiBCyu29Ao9zYumk130_assertion evidence source_evidence_literature NP622266.RACvFsUSZ1E3ZcLG9KE77NObY-bhMWiBCyu29Ao9zYumk130_provenance.
- NP622266.RACvFsUSZ1E3ZcLG9KE77NObY-bhMWiBCyu29Ao9zYumk130_assertion SIO_000772 18575922 NP622266.RACvFsUSZ1E3ZcLG9KE77NObY-bhMWiBCyu29Ao9zYumk130_provenance.
- NP622266.RACvFsUSZ1E3ZcLG9KE77NObY-bhMWiBCyu29Ao9zYumk130_assertion wasDerivedFrom befree-20140225 NP622266.RACvFsUSZ1E3ZcLG9KE77NObY-bhMWiBCyu29Ao9zYumk130_provenance.
- NP622266.RACvFsUSZ1E3ZcLG9KE77NObY-bhMWiBCyu29Ao9zYumk130_assertion wasGeneratedBy ECO_0000203 NP622266.RACvFsUSZ1E3ZcLG9KE77NObY-bhMWiBCyu29Ao9zYumk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP622266.RACvFsUSZ1E3ZcLG9KE77NObY-bhMWiBCyu29Ao9zYumk130_provenance.