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Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

BACKGROUND: Pre‐mRNA splicing is a complex process requiring the identification of donor site, acceptor site, and branch point site with an adjacent polypyrimidine tract sequence. Splicing is regulated by splicing regulatory elements (SREs) with both enhancer and suppressor functions. Variants locat...

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Detalles Bibliográficos
Autores principales:	Katneni, Upendra K., Liss, Aaron, Holcomb, David, Katagiri, Nobuko H., Hunt, Ryan, Bar, Haim, Ismail, Amra, Komar, Anton A., Kimchi‐Sarfaty, Chava
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687662/ https://www.ncbi.nlm.nih.gov/pubmed/31257730 http://dx.doi.org/10.1002/mgg3.840

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