Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP184772.RA0fT5X_SZztSWBgXeP4EielYAHTBQ0y2RKfxMgQ9NX2A130_assertion> ?p ?o ?g. }
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- NP184772.RA0fT5X_SZztSWBgXeP4EielYAHTBQ0y2RKfxMgQ9NX2A130_assertion type Assertion NP184772.RA0fT5X_SZztSWBgXeP4EielYAHTBQ0y2RKfxMgQ9NX2A130_head.
- NP184772.RA0fT5X_SZztSWBgXeP4EielYAHTBQ0y2RKfxMgQ9NX2A130_assertion description "[Recently, gain-of-toxic-function mutations (namely, mutations N88S and S90L) in the seipin gene have been identified in autosomal dominant motor neuron diseases such as Silver syndrome/spastic paraplegia 17 (SPG17) (OMIM #270685) and distal hereditary motor neuropathy type V (dHMN-V) (OMIM #182960).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP184772.RA0fT5X_SZztSWBgXeP4EielYAHTBQ0y2RKfxMgQ9NX2A130_provenance.
- NP184772.RA0fT5X_SZztSWBgXeP4EielYAHTBQ0y2RKfxMgQ9NX2A130_assertion evidence source_evidence_literature NP184772.RA0fT5X_SZztSWBgXeP4EielYAHTBQ0y2RKfxMgQ9NX2A130_provenance.
- NP184772.RA0fT5X_SZztSWBgXeP4EielYAHTBQ0y2RKfxMgQ9NX2A130_assertion SIO_000772 18790819 NP184772.RA0fT5X_SZztSWBgXeP4EielYAHTBQ0y2RKfxMgQ9NX2A130_provenance.
- NP184772.RA0fT5X_SZztSWBgXeP4EielYAHTBQ0y2RKfxMgQ9NX2A130_assertion wasDerivedFrom befree-20140225 NP184772.RA0fT5X_SZztSWBgXeP4EielYAHTBQ0y2RKfxMgQ9NX2A130_provenance.
- NP184772.RA0fT5X_SZztSWBgXeP4EielYAHTBQ0y2RKfxMgQ9NX2A130_assertion wasGeneratedBy ECO_0000203 NP184772.RA0fT5X_SZztSWBgXeP4EielYAHTBQ0y2RKfxMgQ9NX2A130_provenance.