Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP883950.RAQE-bcTbQGflkjFaB0C3o7MeNUBk7q_qfryOHAwvqZDo130_assertion> ?p ?o ?g. }
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- NP883950.RAQE-bcTbQGflkjFaB0C3o7MeNUBk7q_qfryOHAwvqZDo130_assertion type Assertion NP883950.RAQE-bcTbQGflkjFaB0C3o7MeNUBk7q_qfryOHAwvqZDo130_head.
- NP883950.RAQE-bcTbQGflkjFaB0C3o7MeNUBk7q_qfryOHAwvqZDo130_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." NP883950.RAQE-bcTbQGflkjFaB0C3o7MeNUBk7q_qfryOHAwvqZDo130_provenance.
- NP883950.RAQE-bcTbQGflkjFaB0C3o7MeNUBk7q_qfryOHAwvqZDo130_assertion evidence source_evidence_literature NP883950.RAQE-bcTbQGflkjFaB0C3o7MeNUBk7q_qfryOHAwvqZDo130_provenance.
- NP883950.RAQE-bcTbQGflkjFaB0C3o7MeNUBk7q_qfryOHAwvqZDo130_assertion SIO_000772 18790819 NP883950.RAQE-bcTbQGflkjFaB0C3o7MeNUBk7q_qfryOHAwvqZDo130_provenance.
- NP883950.RAQE-bcTbQGflkjFaB0C3o7MeNUBk7q_qfryOHAwvqZDo130_assertion wasDerivedFrom befree-20150227 NP883950.RAQE-bcTbQGflkjFaB0C3o7MeNUBk7q_qfryOHAwvqZDo130_provenance.
- NP883950.RAQE-bcTbQGflkjFaB0C3o7MeNUBk7q_qfryOHAwvqZDo130_assertion wasGeneratedBy ECO_0000203 NP883950.RAQE-bcTbQGflkjFaB0C3o7MeNUBk7q_qfryOHAwvqZDo130_provenance.