PropertyValue
?:definition
  • Molecular assay reagents intended to identify mutations in the ceroid-lipofuscinosis neuronal 5 (CLN5) gene, located at chromosome 13q21.1-q32, whose function is uncertain but has been associated with a putative lysosomal membrane protein. Mutations at this locus have been identified in patients with neuronal ceroid-lipofuscinoses (NCL) type 5.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
expand all