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Genomic features defining exonic variants that modulate splicing

BACKGROUND: Single point mutations at both synonymous and non-synonymous positions within exons can have severe effects on gene function through disruption of splicing. Predicting these mutations in silico purely from the genomic sequence is difficult due to an incomplete understanding of the multip...

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Main Authors: Woolfe, Adam, Mullikin, James C, Elnitski, Laura
格式: Artigo
語言:Inglês
出版: BioMed Central 2010
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2872880/
https://ncbi.nlm.nih.gov/pubmed/20158892
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/gb-2010-11-2-r20
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