PropertyValue
?:definition
  • Molecular assay reagents intended to identify deletions or duplications of the sodium voltage-gated channel alpha subunit 4 (SCN4A) gene, located at chromosome 17q23.3, which encodes the protein sodium channel protein type 4 subunit alpha. Genetic variants at this locus have been associated with congenital myasthenic syndrome, hypokalemic periodic paralysis, paramyotonia congenita of Von Eulenburg, and potassium aggravated myotonia.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/net/provenance/ns#DataItem>
<http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://www.w3.org/2004/03/trix/rdfg-1/Graph>
<http://xmlns.com/foaf/0.1/primaryTopic> <https://research.tib.eu/covid-19/entity/C4286868_UMD>
<http://xmlns.com/foaf/0.1/topic> Anon_0
<http://www.ontologydesignpatterns.org/cp/owl/informationrealization.owl#realizes> <https://research.tib.eu/covid-19/data/entity/C4286868_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all