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Article

Use of Estonian Biobank data and participant recall to improve Wilson's disease management.

European journal of human genetics : EJHG - 1 Nov 2025

Nurm Miriam, Reigo Anu, Annilo Tarmo, Toomsoo Toomas, Nõukas Margit, Nikopensius Tiit, Pankratov Vasili, Reisberg Tuuli, Hudjashov Georgi, Haller Toomas, Tõnisson Neeme

Abstract excerpt

Population-based biobanks enable genomic screening to support initiatives that prevent disease onset or slow its progression and to estimate the prevalence of genetic diseases in the population. Wilson's disease (WD) is a rare genetic copper-accumulation disorder for which timely intervention is crucial, as treatment is readily available. We studied WD in the Estonian Biobank population to advance patient...

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PMID: 39674827
DOI: 10.1038/s41431-024-01767-9
PMCID: PMC12583600

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ATP7B

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