Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1116231.RACjAgtR4WYL3krggdq8pxaqov_kqIQywlzMB6LfaSpsA130_assertion> ?p ?o ?g. }
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- NP1116231.RACjAgtR4WYL3krggdq8pxaqov_kqIQywlzMB6LfaSpsA130_assertion type Assertion NP1116231.RACjAgtR4WYL3krggdq8pxaqov_kqIQywlzMB6LfaSpsA130_head.
- NP1116231.RACjAgtR4WYL3krggdq8pxaqov_kqIQywlzMB6LfaSpsA130_assertion description "[In this study, we report a novel missense SOD1 mutation with a substitution of tryptophan for cysteine at the seventh amino acid (p.C7W, traditionally named p.C6W) based on HUGO Gene Nomenclature in a familial ALS pedigree.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1116231.RACjAgtR4WYL3krggdq8pxaqov_kqIQywlzMB6LfaSpsA130_provenance.
- NP1116231.RACjAgtR4WYL3krggdq8pxaqov_kqIQywlzMB6LfaSpsA130_assertion evidence source_evidence_literature NP1116231.RACjAgtR4WYL3krggdq8pxaqov_kqIQywlzMB6LfaSpsA130_provenance.
- NP1116231.RACjAgtR4WYL3krggdq8pxaqov_kqIQywlzMB6LfaSpsA130_assertion SIO_000772 24094577 NP1116231.RACjAgtR4WYL3krggdq8pxaqov_kqIQywlzMB6LfaSpsA130_provenance.
- NP1116231.RACjAgtR4WYL3krggdq8pxaqov_kqIQywlzMB6LfaSpsA130_assertion wasDerivedFrom befree-2016 NP1116231.RACjAgtR4WYL3krggdq8pxaqov_kqIQywlzMB6LfaSpsA130_provenance.
- NP1116231.RACjAgtR4WYL3krggdq8pxaqov_kqIQywlzMB6LfaSpsA130_assertion wasGeneratedBy ECO_0000203 NP1116231.RACjAgtR4WYL3krggdq8pxaqov_kqIQywlzMB6LfaSpsA130_provenance.