Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1051815.RAbwVVKEt7S4oHQH17mr3ldQIiX7BzJ1hFX3V8RWG7Z2Q130_assertion> ?p ?o ?g. }
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- NP1051815.RAbwVVKEt7S4oHQH17mr3ldQIiX7BzJ1hFX3V8RWG7Z2Q130_assertion type Assertion NP1051815.RAbwVVKEt7S4oHQH17mr3ldQIiX7BzJ1hFX3V8RWG7Z2Q130_head.
- NP1051815.RAbwVVKEt7S4oHQH17mr3ldQIiX7BzJ1hFX3V8RWG7Z2Q130_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." NP1051815.RAbwVVKEt7S4oHQH17mr3ldQIiX7BzJ1hFX3V8RWG7Z2Q130_provenance.
- NP1051815.RAbwVVKEt7S4oHQH17mr3ldQIiX7BzJ1hFX3V8RWG7Z2Q130_assertion evidence source_evidence_literature NP1051815.RAbwVVKEt7S4oHQH17mr3ldQIiX7BzJ1hFX3V8RWG7Z2Q130_provenance.
- NP1051815.RAbwVVKEt7S4oHQH17mr3ldQIiX7BzJ1hFX3V8RWG7Z2Q130_assertion SIO_000772 23398611 NP1051815.RAbwVVKEt7S4oHQH17mr3ldQIiX7BzJ1hFX3V8RWG7Z2Q130_provenance.
- NP1051815.RAbwVVKEt7S4oHQH17mr3ldQIiX7BzJ1hFX3V8RWG7Z2Q130_assertion wasDerivedFrom befree-2016 NP1051815.RAbwVVKEt7S4oHQH17mr3ldQIiX7BzJ1hFX3V8RWG7Z2Q130_provenance.
- NP1051815.RAbwVVKEt7S4oHQH17mr3ldQIiX7BzJ1hFX3V8RWG7Z2Q130_assertion wasGeneratedBy ECO_0000203 NP1051815.RAbwVVKEt7S4oHQH17mr3ldQIiX7BzJ1hFX3V8RWG7Z2Q130_provenance.