PropertyValue
?:definition
  • Molecular assay reagents intended to identify deletions in the facioscapulohumeral muscular dystrophy-1A (FSHMD1A) gene, located in 4q35, which may have a role in the processing of pre-rRNA (ribosomal RNA) or in the assembly of rRNA ribosomal subunits. It is expressed in adult muscle and lymphocytes and also in fetal muscle, brain tissue, and placenta. Inherited genetic deletions are present in most patients with facioscapulohumeral muscular dystrophy type 1A.
?: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/C3689958_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/C3689958_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all