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A spotter’s guide to SNPtic exons: The common splice variants underlying some SNP–phenotype correlations
BACKGROUND: Cryptic exons are typically characterised as deleterious splicing aberrations caused by deep intronic mutations. However, low‐level splicing of cryptic exons is sometimes observed in the absence of any pathogenic mutation. Five recent reports have described how low‐level splicing of cryp...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801146/ https://www.ncbi.nlm.nih.gov/pubmed/34708937 http://dx.doi.org/10.1002/mgg3.1840 |