Article

The qMini assay identifies an overlooked class of splice variants

2023-11-03

Abstract excerpt

Splice variants are known to cause diseases by utilizing alternative splice sites, potentially resulting in protein truncation or mRNA degradation by nonsense-mediated decay. Splice variants are verified when altered mature mRNA sequences are identified in RNA analyses or minigene assays. Using a quantitative minigene assay, qMini, we uncovered a previously overlooked class of disease-associated splice variants th...

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Literature Corpus work: 4f045df4-3bd9-5303-999d-eb3d3932cdf8
DOI: 10.1101/2023.11.02.23297963

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