PropertyValue
?:definition
  • Molecular assay reagents intended to identify mutations in the collagen type XI, alpha1 (COL11A1) gene, located at chromosome 1p21, which encodes for the pro alpha 1 polypeptide chain of collagen XI that adds structure and strength to the connective tissues that support the body\'s muscles, organs, and skin. Mutations at this locus have been identified in patients with early-onset Stickler syndrome type II and Marshall syndrome.
?: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/C3689862_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/C3689862_UMD>
<http://purl.org/net/provenance/ns#createdBy>
Anon_1   (more)
expand all