Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1393870.RAueFWUlEgv_mzL2hl4yOz-OH1OlZ2n0ieTkf9QfcdTDY130_assertion> ?p ?o ?g. }
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- NP1393870.RAueFWUlEgv_mzL2hl4yOz-OH1OlZ2n0ieTkf9QfcdTDY130_assertion type Assertion NP1393870.RAueFWUlEgv_mzL2hl4yOz-OH1OlZ2n0ieTkf9QfcdTDY130_head.
- NP1393870.RAueFWUlEgv_mzL2hl4yOz-OH1OlZ2n0ieTkf9QfcdTDY130_assertion description "[The phenotypes of four allelic mutations identified in the sodium channel gene Scn8a range from ataxia and muscle weakness through severe dystonia and progressive paralysis, indicating that human mutations in this gene could be associated with a variety of clinical syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1393870.RAueFWUlEgv_mzL2hl4yOz-OH1OlZ2n0ieTkf9QfcdTDY130_provenance.
- NP1393870.RAueFWUlEgv_mzL2hl4yOz-OH1OlZ2n0ieTkf9QfcdTDY130_assertion evidence source_evidence_literature NP1393870.RAueFWUlEgv_mzL2hl4yOz-OH1OlZ2n0ieTkf9QfcdTDY130_provenance.
- NP1393870.RAueFWUlEgv_mzL2hl4yOz-OH1OlZ2n0ieTkf9QfcdTDY130_assertion SIO_000772 9562526 NP1393870.RAueFWUlEgv_mzL2hl4yOz-OH1OlZ2n0ieTkf9QfcdTDY130_provenance.
- NP1393870.RAueFWUlEgv_mzL2hl4yOz-OH1OlZ2n0ieTkf9QfcdTDY130_assertion wasDerivedFrom befree-2016 NP1393870.RAueFWUlEgv_mzL2hl4yOz-OH1OlZ2n0ieTkf9QfcdTDY130_provenance.
- NP1393870.RAueFWUlEgv_mzL2hl4yOz-OH1OlZ2n0ieTkf9QfcdTDY130_assertion wasGeneratedBy ECO_0000203 NP1393870.RAueFWUlEgv_mzL2hl4yOz-OH1OlZ2n0ieTkf9QfcdTDY130_provenance.