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- source_evidence_literature type ECO_0000212 NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_provenance.
- NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_assertion description "[We describe cellular lipid metabolism in fibroblasts from two patients with novel compound heterozygote mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene manifesting as Niemann-Pick disease type B (NPB) and demonstrate mechanisms to overcome the storage defect.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_provenance.
- NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_assertion evidence source_evidence_literature NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_provenance.
- NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_assertion SIO_000772 23415435 NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_provenance.
- NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_assertion wasDerivedFrom befree-2016 NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_provenance.
- NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_assertion wasGeneratedBy ECO_0000203 NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_provenance.
- befree-2016 importedOn "2016-02-19" NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_provenance.