Article
The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts.
BMC genomics - 17 Sept 2013
Morrison Faer S, Locke Jonathan M, Wood Andrew R, Tuke Marcus, Pasko Dorota, Murray Anna, Frayling Tim, Harries Lorna W
Abstract excerpt
BACKGROUND: Many genetic variants have been associated with susceptibility to complex traits by genome wide association studies (GWAS), but for most, causal genes and mechanisms of action have yet to be elucidated. Using bioinformatics, we identified index and proxy variants associated with autoimmune disease susceptibility, with the potential to affect splicing of candidate genes. PCR and sequence analysis of...
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