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Quantifying risk modifiers of hereditary hemochromatosis using genomic and electronic health record data from FinnGen and UK Biobank

2025-10-02

Abstract excerpt

Hereditary hemochromatosis is an autosomal recessive disorder characterized by excessive iron accumulation in the body. Early diagnosis of hemochromatosis allows starting treatment before severe organ damage has occurred. The C282Y variant in the HFE gene is the most common cause of hemochromatosis. However, its penetrance of only 20% limits its utility for population-wide screening. We aimed to identify and quant...

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Literature Corpus work
c64b0012-c24d-592b-a630-a40ebc16a045
DOI
10.1101/2025.09.30.25336973
Open publication

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Quantifying risk modifiers of hereditary hemochromatosis using genomic and electronic health record data from FinnGen and UK BiobankDOI 10.1101/2025.09.30.25336973
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