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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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Dettagli Bibliografici
Autori principali: Woolfe, Adam, Mullikin, James C, Elnitski, Laura
Natura: testo
Lingua:English
Pubblicazione: BioMed Central 2010
Soggetti:
Accesso online: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