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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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Detalles Bibliográficos
Autores principales: Guo, Yan, Zhao, Shilin, Lehmann, Brian D, Sheng, Quanhu, Shaver, Timothy M, Stricker, Thomas P, Pietenpol, Jennifer A, Shyr, Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4288651/
https://www.ncbi.nlm.nih.gov/pubmed/25322818
http://dx.doi.org/10.1186/1471-2105-15-332