Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP682596.RALKMdbpZDS3sXEfYxO18nVK2nUB4D--CMJR0cmW60l30130_assertion> ?p ?o ?g. }
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- NP682596.RALKMdbpZDS3sXEfYxO18nVK2nUB4D--CMJR0cmW60l30130_assertion type Assertion NP682596.RALKMdbpZDS3sXEfYxO18nVK2nUB4D--CMJR0cmW60l30130_head.
- NP682596.RALKMdbpZDS3sXEfYxO18nVK2nUB4D--CMJR0cmW60l30130_assertion description "[To report the identification of the T1174S SCN1A (NaV 1.1) mutation in a three-generation family with both epileptic and familial hemiplegic migraine (FHM) phenotypes and clarify the pathomechanism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP682596.RALKMdbpZDS3sXEfYxO18nVK2nUB4D--CMJR0cmW60l30130_provenance.
- NP682596.RALKMdbpZDS3sXEfYxO18nVK2nUB4D--CMJR0cmW60l30130_assertion evidence source_evidence_literature NP682596.RALKMdbpZDS3sXEfYxO18nVK2nUB4D--CMJR0cmW60l30130_provenance.
- NP682596.RALKMdbpZDS3sXEfYxO18nVK2nUB4D--CMJR0cmW60l30130_assertion SIO_000772 23398611 NP682596.RALKMdbpZDS3sXEfYxO18nVK2nUB4D--CMJR0cmW60l30130_provenance.
- NP682596.RALKMdbpZDS3sXEfYxO18nVK2nUB4D--CMJR0cmW60l30130_assertion wasDerivedFrom befree-20150227 NP682596.RALKMdbpZDS3sXEfYxO18nVK2nUB4D--CMJR0cmW60l30130_provenance.
- NP682596.RALKMdbpZDS3sXEfYxO18nVK2nUB4D--CMJR0cmW60l30130_assertion wasGeneratedBy ECO_0000203 NP682596.RALKMdbpZDS3sXEfYxO18nVK2nUB4D--CMJR0cmW60l30130_provenance.