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- NP303885.RAwric8ADNkhBRcHMc5xtR6ceaxHj7VNO1M8abXRm36GI130_assertion type Assertion NP303885.RAwric8ADNkhBRcHMc5xtR6ceaxHj7VNO1M8abXRm36GI130_head.
- NP303885.RAwric8ADNkhBRcHMc5xtR6ceaxHj7VNO1M8abXRm36GI130_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." NP303885.RAwric8ADNkhBRcHMc5xtR6ceaxHj7VNO1M8abXRm36GI130_provenance.
- NP303885.RAwric8ADNkhBRcHMc5xtR6ceaxHj7VNO1M8abXRm36GI130_assertion evidence source_evidence_literature NP303885.RAwric8ADNkhBRcHMc5xtR6ceaxHj7VNO1M8abXRm36GI130_provenance.
- NP303885.RAwric8ADNkhBRcHMc5xtR6ceaxHj7VNO1M8abXRm36GI130_assertion SIO_000772 18790819 NP303885.RAwric8ADNkhBRcHMc5xtR6ceaxHj7VNO1M8abXRm36GI130_provenance.
- NP303885.RAwric8ADNkhBRcHMc5xtR6ceaxHj7VNO1M8abXRm36GI130_assertion wasDerivedFrom befree-20140225 NP303885.RAwric8ADNkhBRcHMc5xtR6ceaxHj7VNO1M8abXRm36GI130_provenance.
- NP303885.RAwric8ADNkhBRcHMc5xtR6ceaxHj7VNO1M8abXRm36GI130_assertion wasGeneratedBy ECO_0000203 NP303885.RAwric8ADNkhBRcHMc5xtR6ceaxHj7VNO1M8abXRm36GI130_provenance.