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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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Detalhes bibliográficos
Main Authors: Woolfe, Adam, Mullikin, James C, Elnitski, Laura
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2010
Assuntos:
Acesso em linha: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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