Spectrum and classification of<i>ATP7B</i>variants with clinical correlation in children with Wilson disease

The mutational spectrum of <i>ATP7B</i> in the Iraqi population is diverse, despite the high rates of consanguinity. It differs from that of neighboring countries. We provided evidence for ten VUS to be reclassified as deleterious, raising questions about the diagnostic criteria for patients with higher Leipzig scores and a single deleterious variant.