Associated Papers
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.
Kerr SM et al.
American Journal of Human Genetics, 2025
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Li M et al.
Bmc Gastroenterology, 2021
High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.
Collet C et al.
Bmc Medical Genetics, 2018
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
Forbes JR et al.
American Journal of Human Genetics, 1998
Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae.
Iida M et al.
Febs Letters, 1998
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