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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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Detalles Bibliográficos
Autores principales: Woolfe, Adam, Mullikin, James C, Elnitski, Laura
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872880/
https://www.ncbi.nlm.nih.gov/pubmed/20158892
http://dx.doi.org/10.1186/gb-2010-11-2-r20