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- source_evidence_literature type ECO_0000212 NP696807.RAAv582dVm3lu-yL-aHf49LDZtec2R2qF2WiY77R-z3hY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP696807.RAAv582dVm3lu-yL-aHf49LDZtec2R2qF2WiY77R-z3hY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP696807.RAAv582dVm3lu-yL-aHf49LDZtec2R2qF2WiY77R-z3hY130_provenance.
- NP696807.RAAv582dVm3lu-yL-aHf49LDZtec2R2qF2WiY77R-z3hY130_assertion description "[The archetypal NARP syndrome is almost exclusively associated with the m.8993T>C/G mutation in the sixth subunit of the mitochondrial ATP synthase, whereas other mutations in the MT-ATP6 gene primarily associate with Leigh syndrome or Leber's hereditary optic neuropathy (LHON).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP696807.RAAv582dVm3lu-yL-aHf49LDZtec2R2qF2WiY77R-z3hY130_provenance.
- NP696807.RAAv582dVm3lu-yL-aHf49LDZtec2R2qF2WiY77R-z3hY130_assertion evidence source_evidence_literature NP696807.RAAv582dVm3lu-yL-aHf49LDZtec2R2qF2WiY77R-z3hY130_provenance.
- NP696807.RAAv582dVm3lu-yL-aHf49LDZtec2R2qF2WiY77R-z3hY130_assertion SIO_000772 23266623 NP696807.RAAv582dVm3lu-yL-aHf49LDZtec2R2qF2WiY77R-z3hY130_provenance.
- NP696807.RAAv582dVm3lu-yL-aHf49LDZtec2R2qF2WiY77R-z3hY130_assertion wasDerivedFrom befree-20140225 NP696807.RAAv582dVm3lu-yL-aHf49LDZtec2R2qF2WiY77R-z3hY130_provenance.
- NP696807.RAAv582dVm3lu-yL-aHf49LDZtec2R2qF2WiY77R-z3hY130_assertion wasGeneratedBy ECO_0000203 NP696807.RAAv582dVm3lu-yL-aHf49LDZtec2R2qF2WiY77R-z3hY130_provenance.
- befree-20140225 importedOn "2014-02-25" NP696807.RAAv582dVm3lu-yL-aHf49LDZtec2R2qF2WiY77R-z3hY130_provenance.