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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής

Κύριοι συγγραφείς:	Miriam Nurm, Tarmo Annilo, Sebastian May-Wilson, Anu Reigo, Reedik Mägi, Urmo Võsa, Neeme Tõnisson, Estonian Biobank Research Team, Toomas Haller
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	BMC 2026-03-01
Σειρά:	BMC Genomics
Θέματα:	Hereditary hemochromatosis Phenome-wide association study Genome-wide association study Biobank Electronic health records
Διαθέσιμο Online:	https://doi.org/10.1186/s12864-026-12746-3
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