PropertyValue
?:definition
  • Molecular assay reagents intended to identify mutations in the collagen, type III, alpha 1 (COL3A1) gene, located at chromosome 2q31, which encodes for type III fibrillar collagen, found in the connective tissue of the lungs, skin, and vascular system. Mutations at this locus have been identified in most patients with Ehlers-Danlos syndrome type IV (EDS4, vascular type).
?: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/C3689857_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/C3689857_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all