PropertyValue
?:definition
  • Molecular assay reagents intended to identify mutations in the neurofilament, light polypeptide 68kDa (NEFL) gene, located at chromosome 8p21, which encodes for a protein component (the light subunit) of neurofilaments. Mutations at this locus have been identified in patients with Charcot-Marie-Tooth disease type 1F and type 2E.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
expand all