Article

Regional nonsense constraint offers clinical and biological insights into rare genetic disorders

2024-10-13

Abstract excerpt

Understanding the molecular consequences of variants which introduce premature termination codons (PTCs) is essential to predicting their clinical impact. Although transcripts with PTCs are generally expected to undergo nonsense-mediated mRNA decay (NMD), up to 45% of all possible PTCs in the human genome are predicted to escape NMD. Existing studies of constraint against predicted loss-of-function variants at the...

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Literature Corpus work: 9bde181d-cf46-502a-9c91-8b7986a067ba
DOI: 10.1101/2024.10.10.24315185

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