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Identification of functional single nucleotide polymorphisms in the branchpoint site

BACKGROUND: The human genome contains millions of single nucleotide polymorphisms (SNPs); many of these SNPs are intronic and have unknown functional significance. SNPs occurring within intron branchpoint sites, especially at the adenine (A), would presumably affect splicing; however, this has not b...

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Detalles Bibliográficos
Autores principales: Chiang, Hung-Lun, Wu, Jer-Yuarn, Chen, Yuan-Tsong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5680774/
https://www.ncbi.nlm.nih.gov/pubmed/29121990
http://dx.doi.org/10.1186/s40246-017-0122-6