The rare disease burden: a multidimensional challenge

Although there no single, widely accepted definition of a “rare disease,” this group of disorders includes conditions that affect only a small fraction of the population. A large number of rare diseases is caused by defined molecular defects, predominantly the occurrence of pathogenic variant(s) of...

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Bibliographic Details
Main Authors: Zuzanna Cyske, Edyta Radzanowska-Alenowicz, Estera Rintz, Lidia Gaffke, Karolina Pierzynowska
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Acta Biochimica Polonica
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Online Access:https://www.frontierspartnerships.org/articles/10.3389/abp.2025.14777/full
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