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aenmd: Annotating escape from nonsense-mediated decay for transcripts with protein-truncating variants
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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory
2023
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| Materias: | |
| 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 |
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