Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP853715.RA5a6yEXFPJgoOCYfEkxG0HSAS0a3mXaSAo6sRHRo0DL8130_assertion> ?p ?o ?g. }
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- NP853715.RA5a6yEXFPJgoOCYfEkxG0HSAS0a3mXaSAo6sRHRo0DL8130_assertion type Assertion NP853715.RA5a6yEXFPJgoOCYfEkxG0HSAS0a3mXaSAo6sRHRo0DL8130_head.
- NP853715.RA5a6yEXFPJgoOCYfEkxG0HSAS0a3mXaSAo6sRHRo0DL8130_assertion wasGeneratedBy ECO_0000203 NP853715.RA5a6yEXFPJgoOCYfEkxG0HSAS0a3mXaSAo6sRHRo0DL8130_provenance.
- NP853715.RA5a6yEXFPJgoOCYfEkxG0HSAS0a3mXaSAo6sRHRo0DL8130_assertion wasDerivedFrom befree-2016 NP853715.RA5a6yEXFPJgoOCYfEkxG0HSAS0a3mXaSAo6sRHRo0DL8130_provenance.
- NP853715.RA5a6yEXFPJgoOCYfEkxG0HSAS0a3mXaSAo6sRHRo0DL8130_assertion SIO_000772 21094958 NP853715.RA5a6yEXFPJgoOCYfEkxG0HSAS0a3mXaSAo6sRHRo0DL8130_provenance.
- NP853715.RA5a6yEXFPJgoOCYfEkxG0HSAS0a3mXaSAo6sRHRo0DL8130_assertion evidence source_evidence_literature NP853715.RA5a6yEXFPJgoOCYfEkxG0HSAS0a3mXaSAo6sRHRo0DL8130_provenance.
- NP853715.RA5a6yEXFPJgoOCYfEkxG0HSAS0a3mXaSAo6sRHRo0DL8130_assertion description "[Gain-of-function mutations in the SCN9A gene (encoding to NaV1.7 voltage-gated sodium channel) cause two rare paroxysmal pain disorders: inherited erythromelalgia (IEM) and paroxysmal extreme pain disorder (PEDP).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP853715.RA5a6yEXFPJgoOCYfEkxG0HSAS0a3mXaSAo6sRHRo0DL8130_provenance.