Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP238459.RA3yZ2B0SmoYENKDVphv-_OLYBtXsqmj2sR7l0zYR72zs130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP238459.RA3yZ2B0SmoYENKDVphv-_OLYBtXsqmj2sR7l0zYR72zs130_assertion type Assertion NP238459.RA3yZ2B0SmoYENKDVphv-_OLYBtXsqmj2sR7l0zYR72zs130_head.
- NP238459.RA3yZ2B0SmoYENKDVphv-_OLYBtXsqmj2sR7l0zYR72zs130_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." NP238459.RA3yZ2B0SmoYENKDVphv-_OLYBtXsqmj2sR7l0zYR72zs130_provenance.
- NP238459.RA3yZ2B0SmoYENKDVphv-_OLYBtXsqmj2sR7l0zYR72zs130_assertion evidence source_evidence_literature NP238459.RA3yZ2B0SmoYENKDVphv-_OLYBtXsqmj2sR7l0zYR72zs130_provenance.
- NP238459.RA3yZ2B0SmoYENKDVphv-_OLYBtXsqmj2sR7l0zYR72zs130_assertion SIO_000772 18790819 NP238459.RA3yZ2B0SmoYENKDVphv-_OLYBtXsqmj2sR7l0zYR72zs130_provenance.
- NP238459.RA3yZ2B0SmoYENKDVphv-_OLYBtXsqmj2sR7l0zYR72zs130_assertion wasDerivedFrom befree-20140225 NP238459.RA3yZ2B0SmoYENKDVphv-_OLYBtXsqmj2sR7l0zYR72zs130_provenance.
- NP238459.RA3yZ2B0SmoYENKDVphv-_OLYBtXsqmj2sR7l0zYR72zs130_assertion wasGeneratedBy ECO_0000203 NP238459.RA3yZ2B0SmoYENKDVphv-_OLYBtXsqmj2sR7l0zYR72zs130_provenance.