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Systematic analysis of nonsense variants uncovers peptide release rate as a novel modifier of nonsense-mediated mRNA decay

2024-01-11

Abstract excerpt

<h4>ABSTRACT</h4> Nonsense variants underlie many genetic diseases. The phenotypic impact of nonsense variants is determined by nonsense-mediated mRNA decay (NMD), which degrades transcripts with premature termination codons (PTCs). Despite its clinical importance, the factors controlling transcript-specific and context-dependent variation in NMD activity remain poorly understood. Through analysis of human geneti...

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Literature Corpus work
584196a6-ae46-5364-bcc9-3cccc9936dc1
DOI
10.1101/2024.01.10.575080
Open publication

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Systematic analysis of nonsense variants uncovers peptide release rate as a novel modifier of nonsense-mediated mRNA decayDOI 10.1101/2024.01.10.575080
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