Associated Papers
The role of untranslated region variants in Mendelian disease: a review.
Wieder N et al.
European Journal of Human Genetics : Ejhg, 2025
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
Martin-Geary AC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.
Bohn E et al.
Frontiers in Molecular Biosciences, 2023
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