Article

Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

2023-06-27

Abstract excerpt

<h4>Background</h4> 5’ untranslated regions (5’UTRs) are essential modulators of protein translation. Predicting the impact of 5’UTR variants is challenging and typically not performed in routine diagnostics. Here, we present a combined approach of a comprehensive prioritization strategy and subsequent functional assays to evaluate 5’UTR variation in two large cohorts of patients with inherited retinal diseases (I...

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Literature Corpus work: 508c20af-e584-5e5b-a239-8f8e156ecc3f
DOI: 10.1101/2023.06.19.23291376

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