aenmd: annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants

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SUMMARY: DNA changes that cause premature termination codons (PTCs) represent a large fraction of clinically relevant pathogenic genomic variation. Typically, PTCs induce transcript degradation by nonsense-mediated mRNA decay (NMD) and render such changes loss-of-function alleles. However, certain P...

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Detalles Bibliográficos
Autores principales: Klonowski, Jonathan, Liang, Qianqian, Coban-Akdemir, Zeynep, Lo, Cecilia, Kostka, Dennis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Applications Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10534055/
https://www.ncbi.nlm.nih.gov/pubmed/37688563
http://dx.doi.org/10.1093/bioinformatics/btad556

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