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

Abstract 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 stu...

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Bibliografiske detaljer

Principais autores:	Miriam Nurm, Tarmo Annilo, Sebastian May-Wilson, Anu Reigo, Reedik Mägi, Urmo Võsa, Neeme Tõnisson, Estonian Biobank Research Team, Toomas Haller
Format:	Artigo
Sprog:	Inglês
Udgivet:	BMC 2026-03-01
Serier:	BMC Genomics
Fag:	Hereditary hemochromatosis Phenome-wide association study Genome-wide association study Biobank Electronic health records
Online adgang:	https://doi.org/10.1186/s12864-026-12746-3
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