Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP682503.RAJZQnaxv530Sh2DzV7ZQ8rc6zgQs0sLLynyrhFEdHZaY130_assertion> ?p ?o ?g. }
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- NP682503.RAJZQnaxv530Sh2DzV7ZQ8rc6zgQs0sLLynyrhFEdHZaY130_assertion type Assertion NP682503.RAJZQnaxv530Sh2DzV7ZQ8rc6zgQs0sLLynyrhFEdHZaY130_head.
- NP682503.RAJZQnaxv530Sh2DzV7ZQ8rc6zgQs0sLLynyrhFEdHZaY130_assertion description "[A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP682503.RAJZQnaxv530Sh2DzV7ZQ8rc6zgQs0sLLynyrhFEdHZaY130_provenance.
- NP682503.RAJZQnaxv530Sh2DzV7ZQ8rc6zgQs0sLLynyrhFEdHZaY130_assertion evidence source_evidence_literature NP682503.RAJZQnaxv530Sh2DzV7ZQ8rc6zgQs0sLLynyrhFEdHZaY130_provenance.
- NP682503.RAJZQnaxv530Sh2DzV7ZQ8rc6zgQs0sLLynyrhFEdHZaY130_assertion SIO_000772 19339291 NP682503.RAJZQnaxv530Sh2DzV7ZQ8rc6zgQs0sLLynyrhFEdHZaY130_provenance.
- NP682503.RAJZQnaxv530Sh2DzV7ZQ8rc6zgQs0sLLynyrhFEdHZaY130_assertion wasDerivedFrom befree-20150227 NP682503.RAJZQnaxv530Sh2DzV7ZQ8rc6zgQs0sLLynyrhFEdHZaY130_provenance.
- NP682503.RAJZQnaxv530Sh2DzV7ZQ8rc6zgQs0sLLynyrhFEdHZaY130_assertion wasGeneratedBy ECO_0000203 NP682503.RAJZQnaxv530Sh2DzV7ZQ8rc6zgQs0sLLynyrhFEdHZaY130_provenance.