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- source_evidence_literature type ECO_0000212 NP1215628.RAX1XilJKOsGHDIEwrLSpvh5xbVzwjCmybXAqOLhn2_9Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1215628.RAX1XilJKOsGHDIEwrLSpvh5xbVzwjCmybXAqOLhn2_9Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1215628.RAX1XilJKOsGHDIEwrLSpvh5xbVzwjCmybXAqOLhn2_9Y130_provenance.
- NP1215628.RAX1XilJKOsGHDIEwrLSpvh5xbVzwjCmybXAqOLhn2_9Y130_assertion description "[APOPT1 mutations are responsible for infantile or childhood-onset mitochondrial disease, hallmarked by the combination of profound COX deficiency with a distinctive neuroimaging presentation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1215628.RAX1XilJKOsGHDIEwrLSpvh5xbVzwjCmybXAqOLhn2_9Y130_provenance.
- NP1215628.RAX1XilJKOsGHDIEwrLSpvh5xbVzwjCmybXAqOLhn2_9Y130_assertion evidence source_evidence_literature NP1215628.RAX1XilJKOsGHDIEwrLSpvh5xbVzwjCmybXAqOLhn2_9Y130_provenance.
- NP1215628.RAX1XilJKOsGHDIEwrLSpvh5xbVzwjCmybXAqOLhn2_9Y130_assertion SIO_000772 25175347 NP1215628.RAX1XilJKOsGHDIEwrLSpvh5xbVzwjCmybXAqOLhn2_9Y130_provenance.
- NP1215628.RAX1XilJKOsGHDIEwrLSpvh5xbVzwjCmybXAqOLhn2_9Y130_assertion wasDerivedFrom befree-2016 NP1215628.RAX1XilJKOsGHDIEwrLSpvh5xbVzwjCmybXAqOLhn2_9Y130_provenance.
- NP1215628.RAX1XilJKOsGHDIEwrLSpvh5xbVzwjCmybXAqOLhn2_9Y130_assertion wasGeneratedBy ECO_0000203 NP1215628.RAX1XilJKOsGHDIEwrLSpvh5xbVzwjCmybXAqOLhn2_9Y130_provenance.
- befree-2016 importedOn "2016-02-19" NP1215628.RAX1XilJKOsGHDIEwrLSpvh5xbVzwjCmybXAqOLhn2_9Y130_provenance.