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Future directions for high-throughput splicing assays in precision medicine

Classification of variants of unknown significance is a challenging technical problem in clinical genetics. As up to one third of disease-causing mutations are thought to affect pre-mRNA splicing, it is important to accurately classify splicing mutations in patient sequencing data. Several consortia...

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Dettagli Bibliografici
Pubblicato in:Hum Mutat
Autori principali: Rhine, Christy L., Neil, Christopher, Glidden, David T., Cygan, Kamil J., Fredericks, Alger M., Wang, Jing, Walton, Nephi A., Fairbrother, William G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6744296/
https://ncbi.nlm.nih.gov/pubmed/31297895
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23866
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