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Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing

Defects in pre-mRNA splicing are frequently a cause of Mendelian disease. Despite the advent of next-generation sequencing, allowing a deeper insight into a patient’s variant landscape, the ability to characterize variants causing splicing defects has not progressed with the same speed. To address t...

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Pubblicato in:Cells
Autori principali: Rowlands, Charlie F, Baralle, Diana, Ellingford, Jamie M
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6953098/
https://ncbi.nlm.nih.gov/pubmed/31779139
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cells8121513
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