Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP682950.RATxdZRA1s_iLZ8n2uNhunhyDi33gbym5FvmBu1kqPy5I130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP682950.RATxdZRA1s_iLZ8n2uNhunhyDi33gbym5FvmBu1kqPy5I130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP682950.RATxdZRA1s_iLZ8n2uNhunhyDi33gbym5FvmBu1kqPy5I130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP682950.RATxdZRA1s_iLZ8n2uNhunhyDi33gbym5FvmBu1kqPy5I130_provenance.
- NP682950.RATxdZRA1s_iLZ8n2uNhunhyDi33gbym5FvmBu1kqPy5I130_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." NP682950.RATxdZRA1s_iLZ8n2uNhunhyDi33gbym5FvmBu1kqPy5I130_provenance.
- NP682950.RATxdZRA1s_iLZ8n2uNhunhyDi33gbym5FvmBu1kqPy5I130_assertion evidence source_evidence_literature NP682950.RATxdZRA1s_iLZ8n2uNhunhyDi33gbym5FvmBu1kqPy5I130_provenance.
- NP682950.RATxdZRA1s_iLZ8n2uNhunhyDi33gbym5FvmBu1kqPy5I130_assertion SIO_000772 18790819 NP682950.RATxdZRA1s_iLZ8n2uNhunhyDi33gbym5FvmBu1kqPy5I130_provenance.
- NP682950.RATxdZRA1s_iLZ8n2uNhunhyDi33gbym5FvmBu1kqPy5I130_assertion wasDerivedFrom befree-20140225 NP682950.RATxdZRA1s_iLZ8n2uNhunhyDi33gbym5FvmBu1kqPy5I130_provenance.
- NP682950.RATxdZRA1s_iLZ8n2uNhunhyDi33gbym5FvmBu1kqPy5I130_assertion wasGeneratedBy ECO_0000203 NP682950.RATxdZRA1s_iLZ8n2uNhunhyDi33gbym5FvmBu1kqPy5I130_provenance.
- befree-20140225 importedOn "2014-02-25" NP682950.RATxdZRA1s_iLZ8n2uNhunhyDi33gbym5FvmBu1kqPy5I130_provenance.