Article

<i>ATP7B</i> variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease

2018-12-17

Abstract excerpt

Wilson disease (WD) is a genetic disorder of copper metabolism caused by variants in the copper transporting P-type ATPase gene ATP7B . Estimates for WD population prevalence vary with 1 in 30,000 generally quoted. However, some genetic studies have reported much higher prevalence rates. The aim of this study was to estimate the population prevalence of WD and the pathogenicity/penetrance of WD variants by determ...

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Literature Corpus work: d4d9ee06-4956-521b-8b40-2eb05a9b94fc
DOI: 10.1101/499285

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