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Detection of internal exon deletion with exon Del

BACKGROUND: Exome sequencing allows researchers to study the human genome in unprecedented detail. Among the many types of variants detectable through exome sequencing, one of the most over looked types of mutation is internal deletion of exons. Internal exon deletions are the absence of consecutive...

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Pubblicato in:BMC Bioinformatics
Autori principali: Guo, Yan, Zhao, Shilin, Lehmann, Brian D, Sheng, Quanhu, Shaver, Timothy M, Stricker, Thomas P, Pietenpol, Jennifer A, Shyr, Yu
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2014
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4288651/
https://ncbi.nlm.nih.gov/pubmed/25322818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2105-15-332
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