PropertyValue
?:definition
  • Molecular assay reagents intended to identify mutations in the eyes absent homolog 1 (EYA1) gene, located at chromosome 8q13.3, which is thought to play a role in organogenesis through its intrinsic protein phosphatase activity. Mutations at this locus have been identified in patients with branchio-oto-renal (BOR) syndrome, also known as Melnick-Fraser syndrome.
?:hasCUIAnnotation
?:hasGeneratedBy
?:type

Metadata

Anon_0  
expand all