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Le Gac et al and Bignell et al reported data that strongly support our results showing the role of heterozygous BMP6 mutations in mild-to-moderate late-onset iron overload with variable phenotype depending on age, sex, as well as genetic and environmental factors. Taken together with our observations, these data highlighted the incomplete penetrance of the BMP6 mutations and confirmed their significant contribution to the severity of the hemochromatosis phenotype, even when associated with non-classical HFE mutations.

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