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Exonic enhancers: proceed with caution in exome and genome sequencing studies

Exonic enhancers (eExons) are coding exons that also function as enhancers of the gene in which they reside or (a) nearby gene(s). Mutations that affect the enhancer activity of these eExons have been associated with human disease. Therefore, eExon mutations should be taken into account in exome and...

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Detalles Bibliográficos
Autor principal: Ahituv, Nadav
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745165/
https://www.ncbi.nlm.nih.gov/pubmed/26856702
http://dx.doi.org/10.1186/s13073-016-0277-0