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Article

A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing.

BMC research notes - 27 Jun 2014

Korir Paul K, Roberts Lisa, Ramesar Raj, Seoighe Cathal

Abstract excerpt

BACKGROUND: Substantial progress has been made in the identification of sequence elements that control mRNA splicing and the genetic variants in these elements that alter mRNA splicing (referred to as splicing quantitative trait loci - sQTLs). Genetic variants that affect mRNA splicing in trans are harder to identify because their effects can be more subtle and diffuse, and the variants are not co-located with...

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Identifiers

PMID: 24969741
DOI: 10.1186/1756-0500-7-401
PMCID: PMC4084799

Genes

PRPF8

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