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Article

The role of untranslated region variants in Mendelian disease: a review.

European journal of human genetics : EJHG - 1 Sept 2025

Wieder Nechama, D'Souza Elston N, Dawes Ruebena, Chan Alexander, Martin-Geary Alexandra, Whiffin Nicola

Abstract excerpt

Untranslated regions (UTRs) flank the protein-coding sequence of a gene. 5'UTR and 3' UTR sequences mediate post-transcriptional regulation via linear and structural elements, controlling RNA stability, cellular localisation and the rate of protein translation. Variants within both 5' and 3' UTRs have been shown to cause disease through a variety of diverse mechanisms. However, for these variants to be routinely...

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Identifiers

PMID: 40610610
DOI: 10.1038/s41431-025-01905-x
PMCID: PMC7617937

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