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Wilson disease (WD) is a rare autosomal recessive genetic disorder that is associated with various mutations in the ATP7B gene. Although
ATP7B variants are frequently identified, the exact mutation patterns remain unknown because of the absence of pedigree studies, and the functional consequences of individual
ATP7B variants remain to be clarified. In this study, we recruited 65 clinically diagnosed...
On the cover: This cover image is an artistic representation of the Research Article Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants by Xiaojin Li et al., DOI: 10.1002/humu.23761. Illustration Credit: Mrs. Shijia Tang.
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