Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP106018.RAaC5VLItyB6hUY_a8DDkGJAFkfb5lxlUnMnv24OR1t2E130_assertion> ?p ?o ?g. }
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- NP106018.RAaC5VLItyB6hUY_a8DDkGJAFkfb5lxlUnMnv24OR1t2E130_assertion type Assertion NP106018.RAaC5VLItyB6hUY_a8DDkGJAFkfb5lxlUnMnv24OR1t2E130_head.
- NP106018.RAaC5VLItyB6hUY_a8DDkGJAFkfb5lxlUnMnv24OR1t2E130_assertion description "[The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP106018.RAaC5VLItyB6hUY_a8DDkGJAFkfb5lxlUnMnv24OR1t2E130_provenance.
- NP106018.RAaC5VLItyB6hUY_a8DDkGJAFkfb5lxlUnMnv24OR1t2E130_assertion evidence source_evidence_literature NP106018.RAaC5VLItyB6hUY_a8DDkGJAFkfb5lxlUnMnv24OR1t2E130_provenance.
- NP106018.RAaC5VLItyB6hUY_a8DDkGJAFkfb5lxlUnMnv24OR1t2E130_assertion SIO_000772 17347258 NP106018.RAaC5VLItyB6hUY_a8DDkGJAFkfb5lxlUnMnv24OR1t2E130_provenance.
- NP106018.RAaC5VLItyB6hUY_a8DDkGJAFkfb5lxlUnMnv24OR1t2E130_assertion wasDerivedFrom gad-20150221 NP106018.RAaC5VLItyB6hUY_a8DDkGJAFkfb5lxlUnMnv24OR1t2E130_provenance.
- NP106018.RAaC5VLItyB6hUY_a8DDkGJAFkfb5lxlUnMnv24OR1t2E130_assertion wasGeneratedBy ECO_0000203 NP106018.RAaC5VLItyB6hUY_a8DDkGJAFkfb5lxlUnMnv24OR1t2E130_provenance.