Identification of functional single nucleotide polymorphisms in the branchpoint site

Identification of functional single nucleotide polymorphisms in the branchpoint site

Abstract 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 h...

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Bibliographic Details
Main Authors: Hung-Lun Chiang, Jer-Yuarn Wu, Yuan-Tsong Chen
Format: Article
Language:English
Published: BMC 2017-11-01
Series:Human Genomics
Subjects:
RNA splicing
Single nucleotide polymorphism
Branchpoint site
Minigene
Online Access:http://link.springer.com/article/10.1186/s40246-017-0122-6

Internet

http://link.springer.com/article/10.1186/s40246-017-0122-6

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