Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP628086.RAvemLwZWM6cR5A-0S28TWjOKm_t-3LRX98ttLSCDJQ9c130_assertion> ?p ?o ?g. }
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- NP628086.RAvemLwZWM6cR5A-0S28TWjOKm_t-3LRX98ttLSCDJQ9c130_assertion type Assertion NP628086.RAvemLwZWM6cR5A-0S28TWjOKm_t-3LRX98ttLSCDJQ9c130_head.
- NP628086.RAvemLwZWM6cR5A-0S28TWjOKm_t-3LRX98ttLSCDJQ9c130_assertion description "[However, analysis of additional patients with non-syndromic ARCI revealed a splice site mutation in CERS3 indicating that a defect in ceramide synthesis is causative for the present skin phenotype of our patients.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP628086.RAvemLwZWM6cR5A-0S28TWjOKm_t-3LRX98ttLSCDJQ9c130_provenance.
- NP628086.RAvemLwZWM6cR5A-0S28TWjOKm_t-3LRX98ttLSCDJQ9c130_assertion evidence source_evidence_literature NP628086.RAvemLwZWM6cR5A-0S28TWjOKm_t-3LRX98ttLSCDJQ9c130_provenance.
- NP628086.RAvemLwZWM6cR5A-0S28TWjOKm_t-3LRX98ttLSCDJQ9c130_assertion SIO_000772 23754960 NP628086.RAvemLwZWM6cR5A-0S28TWjOKm_t-3LRX98ttLSCDJQ9c130_provenance.
- NP628086.RAvemLwZWM6cR5A-0S28TWjOKm_t-3LRX98ttLSCDJQ9c130_assertion wasDerivedFrom befree-20140225 NP628086.RAvemLwZWM6cR5A-0S28TWjOKm_t-3LRX98ttLSCDJQ9c130_provenance.
- NP628086.RAvemLwZWM6cR5A-0S28TWjOKm_t-3LRX98ttLSCDJQ9c130_assertion wasGeneratedBy ECO_0000203 NP628086.RAvemLwZWM6cR5A-0S28TWjOKm_t-3LRX98ttLSCDJQ9c130_provenance.