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

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

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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: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055276/
https://www.ncbi.nlm.nih.gov/pubmed/36993377
http://dx.doi.org/10.1101/2023.03.17.533185

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055276/
https://www.ncbi.nlm.nih.gov/pubmed/36993377
http://dx.doi.org/10.1101/2023.03.17.533185

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