PropertyValue
?:definition
  • Molecular assay reagents intended to identify mutations in the desmoplakin (DSP) gene, located at chromosome 6p24, which encodes the protein desmoplakin. Genetic variants at this locus have been associated with dilated cardiomyopathy with woolly hair and keratoderma; dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis; lethal acantholytic epidermolysis bullosa; skin fragility woolly hair syndrome; keratosis palmoplantaris striata; and arrhythmogenic right ventricular cardiomyopathy.
?: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/C4053087_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/C4053087_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all