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- source_evidence_literature type ECO_0000212 NP557221.RAhretoI2G50f09tmsSReY7krf2G6XVab-cjsylfG1kDY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP557221.RAhretoI2G50f09tmsSReY7krf2G6XVab-cjsylfG1kDY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP557221.RAhretoI2G50f09tmsSReY7krf2G6XVab-cjsylfG1kDY130_provenance.
- NP557221.RAhretoI2G50f09tmsSReY7krf2G6XVab-cjsylfG1kDY130_assertion description "[We have previously described a patient with CADASIL caused by a R133C mutation in the NOTCH3 gene and with a concomitant myopathy caused by a 5650G>A mutation in the MTTA gene in mitochondrial DNA (mtDNA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP557221.RAhretoI2G50f09tmsSReY7krf2G6XVab-cjsylfG1kDY130_provenance.
- NP557221.RAhretoI2G50f09tmsSReY7krf2G6XVab-cjsylfG1kDY130_assertion evidence source_evidence_literature NP557221.RAhretoI2G50f09tmsSReY7krf2G6XVab-cjsylfG1kDY130_provenance.
- NP557221.RAhretoI2G50f09tmsSReY7krf2G6XVab-cjsylfG1kDY130_assertion SIO_000772 16807713 NP557221.RAhretoI2G50f09tmsSReY7krf2G6XVab-cjsylfG1kDY130_provenance.
- NP557221.RAhretoI2G50f09tmsSReY7krf2G6XVab-cjsylfG1kDY130_assertion wasDerivedFrom befree-2016 NP557221.RAhretoI2G50f09tmsSReY7krf2G6XVab-cjsylfG1kDY130_provenance.
- NP557221.RAhretoI2G50f09tmsSReY7krf2G6XVab-cjsylfG1kDY130_assertion wasGeneratedBy ECO_0000203 NP557221.RAhretoI2G50f09tmsSReY7krf2G6XVab-cjsylfG1kDY130_provenance.
- befree-2016 importedOn "2016-02-19" NP557221.RAhretoI2G50f09tmsSReY7krf2G6XVab-cjsylfG1kDY130_provenance.