Unraveling genotype-phenotype relationships in hereditary hemochromatosis through integrated biobank data analysis.

Abstract excerpt

BACKGROUND: Type I hereditary hemochromatosis (HH), caused by pathogenic HFE variants, is among the most common autosomal recessive disorders in Northern Europe. HH genotype–phenotype associations have been difficult to predict due to variable variant penetrance and expressivity. In this study, population-based biobank data were used to conduct a large-scale analysis of symptoms associated with different HH...

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