Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_assertion> ?p ?o ?g. }
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- NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_assertion type Assertion NP1053479.RAgmOOpaPVAhDY8bZVtsONEUA0Ppp6UCclNwrkXAz-6zI130_head.
- 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.