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- source_evidence_literature type ECO_0000212 NP515284.RAuopVq7cH4gxtH5cmRr0bOXSKfinOS-A43jGK4GWjL0Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP515284.RAuopVq7cH4gxtH5cmRr0bOXSKfinOS-A43jGK4GWjL0Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP515284.RAuopVq7cH4gxtH5cmRr0bOXSKfinOS-A43jGK4GWjL0Y130_provenance.
- NP515284.RAuopVq7cH4gxtH5cmRr0bOXSKfinOS-A43jGK4GWjL0Y130_assertion description "[Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP515284.RAuopVq7cH4gxtH5cmRr0bOXSKfinOS-A43jGK4GWjL0Y130_provenance.
- NP515284.RAuopVq7cH4gxtH5cmRr0bOXSKfinOS-A43jGK4GWjL0Y130_assertion evidence source_evidence_literature NP515284.RAuopVq7cH4gxtH5cmRr0bOXSKfinOS-A43jGK4GWjL0Y130_provenance.
- NP515284.RAuopVq7cH4gxtH5cmRr0bOXSKfinOS-A43jGK4GWjL0Y130_assertion SIO_000772 1618760 NP515284.RAuopVq7cH4gxtH5cmRr0bOXSKfinOS-A43jGK4GWjL0Y130_provenance.
- NP515284.RAuopVq7cH4gxtH5cmRr0bOXSKfinOS-A43jGK4GWjL0Y130_assertion wasDerivedFrom befree-2016 NP515284.RAuopVq7cH4gxtH5cmRr0bOXSKfinOS-A43jGK4GWjL0Y130_provenance.
- NP515284.RAuopVq7cH4gxtH5cmRr0bOXSKfinOS-A43jGK4GWjL0Y130_assertion wasGeneratedBy ECO_0000203 NP515284.RAuopVq7cH4gxtH5cmRr0bOXSKfinOS-A43jGK4GWjL0Y130_provenance.
- befree-2016 importedOn "2016-02-19" NP515284.RAuopVq7cH4gxtH5cmRr0bOXSKfinOS-A43jGK4GWjL0Y130_provenance.